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CarrierCheck V2

Empowering Proactive Reproductive Choices

What is Carrier Screening?

Carrier screening is a type of genetic test used to determine if an individual carries a gene for certain genetic disorders. This test is most often utilized by couples who are considering becoming pregnant to assess the risk of their child inheriting one of these genetic disorders.

Why is it important?

Understanding your family’s health history offers valuable insights. However, it represents only one piece of the puzzle. Many people carry genetic mutations linked to inherited conditions without knowing it, as carriers often do not exhibit symptoms.
During conception, a baby inherits half of their genes from each parent. These genes determine traits such as eye color and hair type, but they can also transmit inherited health conditions.
Carrier screening helps identify whether you or your partner are carriers of genes that could be passed on to your baby, particularly for a recessive condition.

What is CarrierCheck V2?

CarrierCheck V2 is a comprehensive expanded carrier screening panel powered by next-generation sequencing (NGS) that analyzes 864 genes associated with 1,267 inherited genetic conditions

CarrierCheck V2 is suitable for everyone, regardless of symptoms or known family history. It can be done during pre-marital, pre-conception, or early prenatal stages.

Who Should Consider CarrierCheck V2?

Carrier screening is helpful for:

Couples planning a family or already pregnant.
Individuals with a family history of genetic disorders.
Individuals from ethnicities with higher carrier rates.
Couples using egg or sperm donors.
IVF clinics and donor banks.
Individuals in consanguineous relationships.
Anyone wishing to understand their reproductive risks, especially concerning recessive conditions.

Specimen Requirements
Clinical usage	CarrierCheck V2 is a comprehensive expanded carrier screening panel powered by next-generation sequencing (NGS) that analyzes 864 genes associated with 1,267 inherited genetic conditions
Type of sample	3ml Blood (EDTA Tube)
Patient requirement	No fasting required
Storage & transportation	Store and transport in ROOM TEMPERATURE. If the sample cannot be transported to the laboratory on the same day of collection, please store it at 2°C to 8°C.
Turnaround Time (TAT)	3 – 4 weeks

CarrierCheck V2 Gene Listing

Gene Name	Chromosome position	Inheritance	Phenotype/Condition
AAAS	12q13.13	AR	Achalasia-addisonianism-alacrimia syndrome
AARS2	6p21.1	AR	Combined oxidative phosphorylation deficiency 8
AARS2	6p21.1	AR	Leukoencephalopathy, progressive, with ovarian failure
ABCA12	2q35	AR	Ichthyosis, congenital, autosomal recessive 4A
ABCA12	2q35	AR	Ichthyosis, congenital, autosomal recessive 4B (harlequin)
ABCA4	1p22.1	AR	Fundus flavimaculatus
ABCA4	1p22.1	AR	Retinal dystrophy, early-onset severe
ABCA4	1p22.1	AR	Retinitis pigmentosa 19
ABCA4	1p22.1	AR	Stargardt disease 1
ABCA4	1p22.1	AR	Cone-rod dystrophy 3
ABCB11	2q31.1	AR	Cholestasis, benign recurrent intrahepatic, 2
ABCB11	2q31.1	AR	Cholestasis, progressive familial intrahepatic 2
ABCB4	7q21.12	AD, AR	Cholestasis, intrahepatic, of pregnancy, 3
ABCB4	7q21.12	AR	Cholestasis, progressive familial intrahepatic 3
ABCB4	7q21.12	AD, AR	Gallbladder disease 1
ABCB7	Xq13.3	XLR	Anemia, sideroblastic, with ataxia
ABCCC	16p13.11	AR	Arterial calcification, generalized, of infancy, 2
ABCCC	16p13.11	AR	Pseudoxanthoma elasticum
ABCC8	11p15.1	AD, AR	Diabetes mellitus, permanent neonatal 3, with or without neurologic features
ABCC8	11p15.1	AD, AR	Hyperinsulinemic hypoglycemia, familial, 1
ABCD1	Xq28	XLR	Adrenoleukodystrophy
ABCD1	Xq28	XLR	Adrenomyeloneuropathy, adult
ABCD4	14q24.3	AR	Methylmalonic aciduria and homocystinuria, cblJ type
ABHD5	3p21.33	AR	Chanarin-Dorfman syndrome
ACAD8	11q25	AR	Isobutyryl-CoA dehydrogenase deficiency
ACADS	3q21.3	AR	Mitochondrial complex I deficiency, nuclear type 20
ACADM	1p31.1	AR	Acyl-CoA dehydrogenase, medium chain, deficiency of
ACADS	12q24.31	AR	Acyl-CoA dehydrogenase, short-chain, deficiency of
ACADSB	10q26.13	AR	2-methylbutyrylglycinuria
ACADVL	17p13.1	AR	VLCAD deficiency
ACAT1	11q22.3	AR	Alpha-methylacetoacetic aciduria
ACE	17q23.3	AR	Renal tubular dysgenesis
ACO2	22q13.2	AR	Optic atrophy 9
ACO2	22q13.2	AR	Infantile cerebellar-retinal degeneration
ACOX1	17q25.1		Mitchell syndrome
ACOX1	17q25.1	AR	Peroxisomal acyl-CoA oxidase deficiency
ACSF3	16q24.3		Combined malonic and methylmalonic aciduria
ADA	20q13.12	AR, SMo	Adenosine deaminase deficiency, partial
ADA	20q13.12	AR, SMo	Severe combined immunodeficiency due to ADA deficiency
ADAMTS13	9q34.2	AR	Thrombotic thrombocytopenic purpura, hereditary
ADAMTS2	5q35.3	AR	Ehlers-Danlos syndrome, dermatosparaxis type
ADAMTSL2	9q34.2	AR	Geleophysic dysplasia 1
ADAR	1q21.3	AR	Aicardi-Goutieres syndrome 6
ADCK3	1q42.13	AR	Coenzyme Ǫ10 deficiency, primary, 4
ADK	10q22.2	AR	Hypermethioninemia due to adenosine kinase deficiency
AFG3L2	18p11.21	AR	Spastic ataxia 5, autosomal recessive
AGA	4q34.3	AR	Aspartylglucosaminuria
AGK	7q34	AR	Cataract 38, autosomal recessive
AGK	7q34	AR	Sengers syndrome
AGL	1p21.2	AR	Glycogen storage disease IIIa
AGL	1p21.2	AR	Glycogen storage disease IIIb
AGPS	2q31.2	AR	Rhizomelic chondrodysplasia punctata, type 3
AGT	1q42.2	AR	Renal tubular dysgenesis
AGTR1	3q24	AR	Renal tubular dysgenesis
AGXT	2q37.3	AR	Hyperoxaluria, primary, type 1
AHCY	20q11.22	AR	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
AHI1	6q23.3	AR	Joubert syndrome 3
AIPL1	17p13.2	AD, AR	Cone-rod dystrophy
AIPL1	17p13.2	AD, AR	Leber congenital amaurosis 4
AIPL1	17p13.2	AD, AR	Retinitis pigmentosa, juvenile
AIRE	21q22.3	AD, AR	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
ALDH3A2	17p11.2	AR	Sjogren-Larsson syndrome
ALDH4A1	1p36.13	AR	Hyperprolinemia, type II
ALDH5A1	6p22.3	AR	Succinic semialdehyde dehydrogenase deficiency
ALDH7A1	5q23.2	AR	Epilepsy, pyridoxine-dependent
ALDOB	9q31.1	AR	Fructose intolerance, hereditary
ALG1	16p13.3	AR	Congenital disorder of glycosylation, type Ik
ALGC	1p31.3	AR	Congenital disorder of glycosylation, type Ic
ALMS1	2p13.1	AR	Alstrom syndrome
ALOX12B	17p13.1	AR	Ichthyosis, congenital, autosomal recessive 2
ALPL	1p36.12	AD, AR	Hypophosphatasia, adult
ALPL	1p36.12	AR	Hypophosphatasia, childhood
ALPL	1p36.12	AR	Hypophosphatasia, infantile
ALPL	1p36.12	AD, AR	Odontohypophosphatasia
ALS2	2q33.1	AR	Amyotrophic lateral sclerosis 2, juvenile
ALS2	2q33.1	AR	Primary lateral sclerosis, juvenile
ALS2	2q33.1	AR	Spastic paralysis, infantile onset ascending
AMACR	5p13.2	AR	Alpha-methylacyl-CoA racemase deficiency
AMACR	5p13.2	AR	Bile acid synthesis defect, congenital, 4
AMT	3p21.31	AR	Glycine encephalopathy
ANTXR2	4q21.21	AR	Hyaline fibromatosis syndrome
AP1S1	7q22.1	AR	MEDNIK syndrome
AP1S2	Xp22.2	XLR	Mental retardation, X-linked syndromic 5
AP3B1	5q14.1	AR	Hermansky-Pudlak syndrome 2
APTX	9p21.1	AR	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ASAH1	8p22	AR	Farber lipogranulomatosis
ASAH1	8p22	AR	Spinal muscular atrophy with progressive myoclonic epilepsy
AǪP2	12q13.12	AD, AR	Diabetes insipidus, nephrogenic
AR	Xq12	XLR	Androgen insensitivity
AR	Xq12	XLR	Androgen insensitivity, partial, with or without breast cancer
AR	Xq12	XLR	Hypospadias 1, X-linked
AR	Xq12	XLR	Spinal and bulbar muscular atrophy of Kennedy
ARG1	6q23.2	AR	Argininemia
ARL13B	3q11.1-q11.2	AR	Joubert syndrome 8
ARLC	3q11.2	AR, DR	Bardet-Biedl syndrome 1, modifier of
ARLC	3q11.2	AR	Bardet-Biedl syndrome 3
ARSA	22q13.33	AR	Metachromatic leukodystrophy
ARSB	5q14.1	AR	Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ARSE	Xp22.33	XLR	Chondrodysplasia punctata, X-linked recessive
ARX	Xp21.3	XLR	Epileptic encephalopathy, early infantile, 1
ARX	Xp21.3	XL	Hydranencephaly with abnormal genitalia
ARX	Xp21.3	XL	Lissencephaly, X-linked 2
ARX	Xp21.3	XLR	Mental retardation, X-linked 29 and others
ARX	Xp21.3	XLR	Partington syndrome
ARX	Xp21.3	XL	Proud syndrome
ASL	7q11.21	AR	Argininosuccinic aciduria
ASNS	7q21.3	AR	Asparagine synthetase deficiency
ASPA	17p13.2	AR	Canavan disease
ASPM	1q31.3	AR	Microcephaly 5, primary, autosomal recessive
ASS1	9q34.11	AR	Citrullinemia
ATM	11q22.3	AR	Ataxia-telangiectasia
ATP13A2	1p36.13	AR	Kufor-Rakeb syndrome
ATP13A2	1p36.13	AR	Spastic paraplegia 78, autosomal recessive
ATP5E	20q13.32	AR	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
ATPCV0A2	12q24.31	AR	Cutis laxa, autosomal recessive, type IIA
ATPCV0A2	12q24.31	AR	Wrinkly skin syndrome
ATPCV1B1	2p13.3	AR	Distal renal tubular acidosis 2 with progressive sensorineural hearing loss
ATP7A	Xq21.1	XLR	Menkes disease
ATP7A	Xq21.1	XLR	Occipital horn syndrome
ATP7A	Xq21.1	XLR	Spinal muscular atrophy, distal, X-linked 3
ATP7B	13q14.3	AR	Wilson disease
ATP8B1	18q21.31	AR	Cholestasis, benign recurrent intrahepatic
ATP8B1	18q21.31	AR	Cholestasis, progressive familial intrahepatic 1
ATPAF2	17p11.2	AR	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
ATR	3q23	AR	Seckel syndrome 1
ATRX	Xq21.1	XLR	Mental retardation-hypotonic facies syndrome, X-linked
AUH	9q22.31	AR	3-methylglutaconic aciduria, type I
AVP	20p13		Diabetes Insipidus, Neurohypophyseal
B4GALT1	9p21.1	AR	Congenital disorder of glycosylation, type IId
BSD1	17p11.2	AR	Meckel syndrome 9
BSD1	17p11.2	AR	Joubert syndrome 27
BSD2	19q13.2	AR	Meckel syndrome 10
BSD2	19q13.2	AR	Joubert syndrome 34
BBS1	11q13.2	AR, DR	Bardet-Biedl syndrome 1
BBS10	12q21.2	AR	Bardet-Biedl syndrome 10
BBS12	4q27	AR	Bardet-Biedl syndrome 12
BBS2	16q13	AR	Bardet-Biedl syndrome 2
BBS2	16q13	AR	Retinitis pigmentosa 74
BBS4	15q24.1	AR	Bardet-Biedl syndrome 4
BBS5	2q31.1	AR	Bardet-Biedl syndrome 5
BBS7	4q27	AR	Bardet-Biedl syndrome 7
BBSS	7p14.3	AR	Bardet-Biedl syndrome 9
BCHE	3q26.1	AR	Butyrylcholinesterase deficiency
BCKDHA	19q13.2	AR	Maple syrup urine disease, type Ia
BCKDHB	6q14.1	AR	Maple syrup urine disease, type Ib
BCS1L	2q35	AR	Bjornstad syndrome
BCS1L	2q35	AR	GRACILE syndrome
BCS1L	2q35	AR, Mi	Leigh syndrome
BCS1L	2q35	AR	Mitochondrial complex III deficiency, nuclear type 1
BLM	15q26.1	AR	Bloom syndrome
BRCA2	13q13.1	AR	Glioblastoma 3
BRCA2	13q13.1	AD, AR, SMu	Medulloblastoma
BRCA2	13q13.1	AR	Fanconi anemia, complementation group D1
BRWD3	Xq21.1	XLR	Mental retardation, X-linked 93
BSCL2	11q12.3	AR	Encephalopathy, progressive, with or without lipodystrophy
BSCL2	11q12.3	AR	Lipodystrophy, congenital generalized, type 2
BSND	1p32.3	AR	Bartter syndrome, type 4a
BSND	1p32.3	AR	Sensorineural deafness with mild renal dysfunction
BTD	3p25.1	AR	Biotinidase deficiency
BTK	Xq22.1	XLR	Agammaglobulinemia, X-linked 1
BTK	Xq22.1	XLR	Isolated growth hormone deficiency, type III, with agammaglobulinemia
C10orf2	10q24.31	AR	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
C10orf2	10q24.31	AR	Perrault syndrome 5
C12orfC5	12q24.31	AR	Combined oxidative phosphorylation deficiency 7
C12orfC5	12q24.31	AR	Spastic paraplegia 55, autosomal recessive
C5orf42	5p13.2	AR	Joubert syndrome 17
C5orf42	5p13.2	AR	Orofaciodigital syndrome VI
CA2	8q21.2	AR	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CANT1	17q25.3	AR	Desbuquois dysplasia 1
CANT1	17q25.3	AR	Epiphyseal dysplasia, multiple, 7
CAPN3	15q15.1	AD	Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3	15q15.1	AR	Muscular dystrophy, limb-girdle, autosomal recessive 1
CASǪ2	1p13.1	AR	Ventricular tachycardia, catecholaminergic polymorphic, 2
CBS	21q22.3	AR	Homocystinuria, B6-responsive and nonresponsive types
CBS	21q22.3	AR	Thrombosis, hyperhomocysteinemic
CC2D2A	4p15.32	AR	COACH syndrome
CC2D2A	4p15.32	AR	Joubert syndrome 9
CC2D2A	4p15.32	AR	Meckel syndrome 6
CCDC103	17q21.31	AR	Ciliary dyskinesia, primary, 17
CCDC151	19p13.2	AR	Ciliary dyskinesia, primary, 30
CCDC3S	3q26.33	AR	Ciliary dyskinesia, primary, 14
CD320	19p13.2		Methylmalonic aciduria, transient, due to transcobalamin receptor defect
CD40LG	Xq26.3	XLR	Immunodeficiency, X-linked, with hyper-IgM
CDH23	10q22.1	AR	Deafness, autosomal recessive 12
CDH23	10q22.1	AR, DR	Usher syndrome, type 1D
CDH23	10q22.1	AR, DR	Usher syndrome, type 1D/F digenic
CDK5RAP2	9q33.2	AR	Microcephaly 3, primary, autosomal recessive
CDKL5	Xp22.13	XL	Epileptic Encephalopathy, Early Infantile, 2
CENPJ	13q12.12-q12.13	AR	Seckel syndrome 4
CENPJ	13q12.12-q12.13	AR	Microcephaly 6, primary, autosomal recessive
CEP152	15q21.1	AR	Microcephaly 9, primary, autosomal recessive
CEP152	15q21.1	AR	Seckel syndrome 5
CEP2S0	12q21.32	AR	Bardet-Biedl syndrome 14
CEP2S0	12q21.32	AR	Joubert syndrome 5
CEP2S0	12q21.32	AR	Meckel syndrome 4
CEP2S0	12q21.32	AR	Senior-Loken syndrome 6
CEP41	7q32.2	AR	Joubert syndrome 15
CERKL	2q31.3	AR	Retinitis pigmentosa 26
CFP	Xp11.23	XLR	Properdin deficiency, X-linked
CFTR	7q31.2	AR	Congenital bilateral absence of vas deferens
CFTR	7q31.2	AR	Cystic fibrosis
CHAT	10q11.23	AR	Myasthenic syndrome, congenital, 6, presynaptic
CHKB	22q13.33	AR	Muscular dystrophy, congenital, megaconial type
CHM	Xq21.2	XL	Choroideremia
CHRNA1	2q31.1	AR	Multiple pterygium syndrome, lethal type
CHRNA1	2q31.1	AD, AR	Myasthenic syndrome, congenital, 1B, fast-channel
CHRND	2q37.1	AR	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
CHRND	2q37.1	AR	Multiple pterygium syndrome, lethal type
CHRND	2q37.1	AR	Myasthenic syndrome, congenital, 3B, fast-channel
CHRNE	17p13.2	AD, AR	Myasthenic syndrome, congenital, 4A, slow-channel
CHRNE	17p13.2	AR	Myasthenic syndrome, congenital, 4B, fast-channel
CHRNE	17p13.2	AR	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
CHRNG	2q37.1	AR	Escobar syndrome
CHRNG	2q37.1	AR	Multiple pterygium syndrome, lethal type
CHSTC	16q23.1	AR	Macular corneal dystrophy
CIITA	16p13.13	AR	Bare lymphocyte syndrome, type II, complementation group A
CISD2	4q24	AR	Wolfram syndrome 2
CLCN1	7q34	AR	Myotonia congenita, recessive
CLCN7	16p13.3	AR	Osteopetrosis, autosomal recessive 4
CLDN1	3q28	AR	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
CLDN14	21q22.13	AR	Deafness, autosomal recessive 29
CLDN1S	1p34.2	AR	Hypomagnesemia 5, renal, with ocular involvement
CLN3	16p12.1	AR	Ceroid lipofuscinosis, neuronal, 3
CLN5	13q22.3	AR	Ceroid lipofuscinosis, neuronal, 5
CLNC	15q23	AR	Ceroid lipofuscinosis, neuronal, 6
CLNC	15q23	AR	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset
CLN8	8p23.3	AR	Ceroid lipofuscinosis, neuronal, 8
CLN8	8p23.3	AR	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
CLRN1	3q25.1	AR	Usher syndrome, type 3A
CNGA1	4p12	AR	Retinitis pigmentosa 49
CNGA3	2q11.2	AR	Achromatopsia 2
CNGB1	16q21	AR	Retinitis pigmentosa 45
CNGB3	8q21.3	AR	Achromatopsia 3
CNTN1	12q12	AR	Myopathy, congenital, Compton-North
COL11A1	1p21.1	AR	Fibrochondrogenesis 1
COL17A1	10q25.1	AR	Epidermolysis bullosa, junctional, localisata variant
COL17A1	10q25.1	AR	Epidermolysis bullosa, junctional, non-Herlitz type
COL1A2	7q21.3	AR	Ehlers-Danlos syndrome, cardiac valvular type
COL27A1	9q32	AR	Steel syndrome
COL4A3	2q36.3	AR	Alport syndrome 2, autosomal recessive
COL4A4	2q36.3	AR	Alport syndrome 2, autosomal recessive
COL4A5	Xq22.3	XL	Alport syndrome 1, X-linked
COLCA1	21q22.3	AD, AR	Bethlem myopathy 1
COLCA1	21q22.3	AD, AR	Ullrich congenital muscular dystrophy 1
COLCA2	21q22.3	AR	Myosclerosis, congenital
COLCA2	21q22.3	AD, AR	Bethlem myopathy 1
COLCA2	21q22.3	AD, AR	Ullrich congenital muscular dystrophy 1
COLCA3	2q37.3	AD, AR	Bethlem myopathy 1
COLCA3	2q37.3	AR	Dystonia 27
COLCA3	2q37.3	AD, AR	Ullrich congenital muscular dystrophy 1
COL7A1	3p21.31	AR	EBD inversa
COL7A1	3p21.31	AR	Epidermolysis bullosa dystrophica, AR
COL7A1	3p21.31	AD, AR	Epidermolysis bullosa pruriginosa
COL7A1	3p21.31	AD, AR	Epidermolysis bullosa, pretibial
COL7A1	3p21.31	AD, AR	Transient bullous of the newborn
COLǪ	3p25.1	AR	Myasthenic syndrome, congenital, 5
COǪC	14q24.3	AR	Coenzyme Ǫ10 deficiency, primary, 6
COǪS	16q21	AR	Coenzyme Ǫ10 deficiency, primary, 5
COX10	17p12	AR, Mi	Leigh syndrome due to mitochondrial COX4 deficiency
COX10	17p12	AR, Mi	Mitochondrial complex IV deficiency
COX15	10q24.2	AR	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
COX15	10q24.2	AR, Mi	Leigh syndrome due to cytochrome c oxidase deficiency
COX20	1q44	AR, Mi	Mitochondrial complex IV deficiency
COXCB1	19q13.12	AR, Mi	Mitochondrial complex IV deficiency
CPS1	2q34	AR	Carbamoylphosphate synthetase I deficiency
CPT1A	11q13.3	AR	CPT deficiency, hepatic, type IA
CPT2	1p32.3	AD, AR	Encephalopathy, acute, infection-induced, 4, susceptibility to
CPT2	1p32.3	AR	CPT II deficiency, infantile
CPT2	1p32.3	AR	CPT II deficiency, lethal neonatal
CPT2	1p32.3	AD, AR	CPT II deficiency, myopathic, stress-induced
CRB1	1q31.3	AR	Leber congenital amaurosis 8
CRB1	1q31.3	AR	Retinitis pigmentosa-12
CRLF1	19p13.11	AR	Cold-induced sweating syndrome 1
CRTAP	3p22.3	AR	Osteogenesis imperfecta, type VII
CRX	19q13.33	AR	Leber congenital amaurosis 7
CSTB	21q22.3	AR	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)
CTNS	17p13.2	AR	Cystinosis, atypical nephropathic
CTNS	17p13.2	AR	Cystinosis, late-onset juvenile or adolescent nephropathic
CTNS	17p13.2	AR	Cystinosis, nephropathic
CTNS	17p13.2	AR	Cystinosis, ocular nonnephropathic
CTSC	11q14.2	AR	Haim-Munk syndrome
CTSC	11q14.2	AR	Papillon-Lefevre syndrome
CTSC	11q14.2	AR	Periodontitis 1, juvenile
CTSD	11p15.5	AR	Ceroid lipofuscinosis, neuronal, 10
CTSF	11q13.2	AR	Ceroid lipofuscinosis, neuronal, 13, Kufs type
CTSK	1q21.3	AR	Pycnodysostosis
CUL4B	Xq24	XLR	Mental retardation, X-linked, syndromic 15 (Cabezas type)
CYBA	16q24.2	AR	Chronic granulomatous disease 4, autosomal recessive
CYBB	Xp21.1-p11.4	XLR	Chronic granulomatous disease, X-linked
CYBB	Xp21.1-p11.4	XLR	Immunodeficiency 34, mycobacteriosis, X-linked
CYP11B1	8q24.3	AR	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
CYP11B2	8q24.3	AR	Hypoaldosteronism, congenital, due to CMO I deficiency
CYP11B2	8q24.3	AR	Hypoaldosteronism, congenital, due to CMO II deficiency
CYP17A1	10q24.32	AR	17-alpha-hydroxylase/17,20-lyase deficiency
CYP1SA1	15q21.2	AR	17,20-lyase deficiency, isolated
CYP1B1	2p22.2	AR	Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
CYP21A2	6p21.33	AR	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
CYP21A2	6p21.33	AR	Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
CYP27A1	2q35	AR	Cerebrotendinous xanthomatosis
CYP27B1	12q14.1	AR	Vitamin D-dependent rickets, type I
D2HGDH	2q37.3	AR	D-2-hydroxyglutaric aciduria
DBT	1p21.2	AR	Maple syrup urine disease, type II
DCAF17	2q31.1	AR	Woodhouse-Sakati syndrome
DCLRE1C	10p13	AR	Omenn syndrome
DCLRE1C	10p13	AR	Severe combined immunodeficiency, Athabascan type
DCX	Xq23	XL	Lissencephaly, X-linked
DCX	Xq23	XL	Subcortical laminal heterotopia, X-linked
DDB2	11p11.2	AR	Xeroderma pigmentosum, group E, DDB-negative subtype
DDC	7p12.2-p12.1	AR	Aromatic L-amino acid decarboxylase deficiency
DFNB31	9q32	AR	Deafness, autosomal recessive 31
DFNB5S	2q31.2	AR	Deafness, autosomal recessive 59
DGUOK	2p13.1	AR	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DGUOK	2p13.1	AR	Portal hypertension, noncirrhotic
DGUOK	2p13.1	AR	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
DHCR24	1p32.3	AR	Desmosterolosis
DHCR7	11q13.4	AR	Smith-Lemli-Opitz syndrome
DHDDS	1p36.11	AR	Congenital disorder of glycosylation, type 1bb
DHDDS	1p36.11	AR	Retinitis pigmentosa 59
DKC1	Xq28	XLR	Dyskeratosis congenita, X-linked
DLAT	11q23.1	AR	Pyruvate dehydrogenase E2 deficiency
DLD	7q31.1	AR	Dihydrolipoamide dehydrogenase deficiency
DLG3	Xq13.1	XLR	Mental retardation, X-linked 90
DLL3	19q13.2	AR	Spondylocostal dysostosis 1, autosomal recessive
DMD	Xp21.2-p21.1	XLR	Becker muscular dystrophy
DMD	Xp21.2-p21.1	XL	Cardiomyopathy, dilated, 3B
DMD	Xp21.2-p21.1	XLR	Duchenne muscular dystrophy
DMP1	4q22.1	AR	Hypophosphatemic rickets, AR
DNAH5	5p15.2	AR	Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI1	9p13.3	AR	Ciliary dyskinesia, primary, 1, with or without situs inversus
DNAI2	17q25.1	AR	Ciliary dyskinesia, primary, 9, with or without situs inversus
DNAJC1S	3q26.33	AR	3-methylglutaconic aciduria, type V
DNAJC5	20q13.33		Neuronal ceroid lipofuscinosis
DNAL1	14q24.3	AR	Ciliary dyskinesia, primary, 16
DNMT3B	20q11.21	AR	Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DOK7	4p16.3	AR	Fetal akinesia deformation sequence 3
DOK7	4p16.3	AR	Myasthenic syndrome, congenital, 10
DOLK	9q34.11	AR	Congenital disorder of glycosylation, type Im
DPAGT1	11q23.3	AR	Congenital disorder of glycosylation, type Ij
DPAGT1	11q23.3	AR	Myasthenic syndrome, congenital, 13, with tubular aggregates
DPM1	20q13.13	AR	Congenital disorder of glycosylation, type Ie
DPYD	1p21.3	AR	5-fluorouracil toxicity
DPYD	1p21.3	AR	Dihydropyrimidine dehydrogenase deficiency
DSP	6p24.3	AR	Epidermolysis bullosa, lethal acantholytic
DSP	6p24.3	AR	Cardiomyopathy, dilated, with woolly hair and keratoderma
DSP	6p24.3	AR	Skin fragility-woolly hair syndrome
DTNBP1	6p22.3	AR	Hermansky-Pudlak syndrome 7
DUOX2	15q21.1	AR	Thyroid dyshormonogenesis 6
DUOXA2	15q21.1	AR	Thyroid dyshormonogenesis 5
DYM	18q21.1	AR	Dyggve-Melchior-Clausen disease
DYM	18q21.1	AR	Smith-McCort dysplasia
DYNC2H1	11q22.3	AR, DR	Short-rib thoracic dysplasia 3 with or without polydactyly
DYSF	2p13.2	AR	Miyoshi muscular dystrophy 1
DYSF	2p13.2	AR	Muscular dystrophy, limb-girdle, autosomal recessive 2
DYSF	2p13.2	AR	Myopathy, distal, with anterior tibial onset
EARS2	16p12.2	AR	Combined oxidative phosphorylation deficiency 12
EDA	Xq13.1	XLR	Ectodermal dysplasia 1, hypohidrotic, X-linked
EDAR	2q13	AR	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
EDN3	20q13.32	AD, AR	Waardenburg syndrome, type 4B
EDNRB	13q22.3	AR	ABCD syndrome
EDNRB	13q22.3	AD, AR	Waardenburg syndrome, type 4A
EFEMP2	11q13.1	AR	Cutis laxa, autosomal recessive, type IB
EGR2	10q21.3	AD, AR	Dejerine-Sottas disease
EGR2	10q21.3	AD, AR	Hypomyelinating neuropathy, congenital, 1
EIF2AK3	2p11.2	AR	Wolcott-Rallison syndrome
EIF2B5	3q27.1	AR	Leukoencephalopathy with vanishing white matter
EIF2B5	3q27.1	AR	Ovarioleukodystrophy
EMD	Xq28	XLR	Emery-Dreifuss muscular dystrophy 1, X-linked
ENO3	17p13.2	AR	Glycogen storage disease XIII
ENPP1	6q23.2	AD, AR, Mu	Obesity, susceptibility to
ENPP1	6q23.2	AR	Arterial calcification, generalized, of infancy, 1
ENPP1	6q23.2	AR	Hypophosphatemic rickets, autosomal recessive, 2
EPM2A	6q24.3	AR	Epilepsy, progressive myoclonic 2A (Lafora)
ERBB3	12q13.2	AR	Lethal congenital contractural syndrome 2
ERCC2	19q13.32	AR	Cerebrooculofacioskeletal syndrome 2
ERCC2	19q13.32	AR	Trichothiodystrophy 1, photosensitive
ERCC2	19q13.32	AR	Xeroderma pigmentosum, group D
ERCC3	2q14.3	AR	Trichothiodystrophy 2, photosensitive
ERCC3	2q14.3	AR	Xeroderma pigmentosum, group B
ERCC4	16p13.12	AR	Fanconi anemia, complementation group Ǫ
ERCC4	16p13.12	AR	Xeroderma pigmentosum, group F
ERCC4	16p13.12	AR	Xeroderma pigmentosum, type F/Cockayne syndrome
ERCC4	16p13.12	AR	XFE progeroid syndrome
ERCC5	13q33.1	AR	Cerebrooculofacioskeletal syndrome 3
ERCC5	13q33.1	AR	Xeroderma pigmentosum, group G
ERCC5	13q33.1	AR	Xeroderma pigmentosum, group G/Cockayne syndrome
ERCCC	10q11.23	AR	UV-sensitive syndrome 1
ERCCC	10q11.23	AR	Cerebrooculofacioskeletal syndrome 1
ERCCC	10q11.23	AR	Cockayne syndrome, type B
ERCCC	10q11.23	AR	De Sanctis-Cacchione syndrome
ERCC8	5q12.1	AR	Cockayne syndrome, type A
ERCC8	5q12.1	AR	UV-sensitive syndrome 2
ESCO2	8p21.1	AR	Roberts syndrome
ESCO2	8p21.1	AR	SC phocomelia syndrome
ESPN	1p36.31	AR	Usher syndrome, type 1M
ESPN	1p36.31	AR	Deafness, autosomal recessive 36
ESPN	1p36.31	AR	Deafness, neurosensory, without vestibular involvement, autosomal dominant
ESRRB	14q24.3	AR	Deafness, autosomal recessive 35
ETFA	15q24.2-q24.3	AR	Glutaric acidemia IIA
ETFB	19q13.41	AR	Glutaric acidemia IIB
ETFDH	4q32.1	AR	Glutaric acidemia IIC
ETHE1	19q13.31	AR	Ethylmalonic encephalopathy
EVC	4p16.2	AR	Ellis-van Creveld syndrome
EVC2	4p16.2	AR	Ellis-van Creveld syndrome
EXOSC3	9p13.2	AR	Pontocerebellar hypoplasia, type 1B
EYS	6q12	AR	Retinitis pigmentosa 25
F11	4q35.2	AR	Factor XI deficiency
F2	11p11.2	AR	Dysprothrombinemia
F2	11p11.2	AR	Hypoprothrombinemia
F5	1q24.2	AR	Budd-Chiari syndrome
F5	1q24.2	AR	Factor V deficiency
F8	Xq28	XLR	Hemophilia A
FS	Xq27.1	XLR	Deep venous thrombosis, protection against
FS	Xq27.1	XL	Warfarin sensitivity
FS	Xq27.1	XLR	Hemophilia B
FS	Xq27.1	XLR	Thrombophilia, X-linked, due to factor IX defect
FAH	15q25.1	AR	Tyrosinemia, type I
FAM12CA	7p15.3	AR	Leukodystrophy, hypomyelinating, 5
FAM1C1A	2p15	AR	Retinitis pigmentosa 28
FAM20C	7p22.3	AR	Raine syndrome
FANCA	16q24.3	AR	Fanconi anemia, complementation group A
FANCB	Xp22.2	XLR	Fanconi anemia, complementation group B
FANCC	9q22.32	AR	Fanconi anemia, complementation group C
FANCG	9p13.3	AR	Fanconi anemia, complementation group G
FARS2	6p25.1	AR	Combined oxidative phosphorylation deficiency 14
FARS2	6p25.1	AR	Spastic paraplegia 77, autosomal recessive
FASTKD2	2q33.3	AR	Combined oxidative phosphorylation deficiency 44
FBLN5	14q32.12	AR	Cutis laxa, autosomal recessive, type IA
FBP1	9q22.32	AR	Fructose-1,6-bisphosphatase deficiency
FECH	18q21.31	AR	Protoporphyria, erythropoietic, 1
FGD1	Xp11.22	XLR	Aarskog-Scott syndrome
FGD1	Xp11.22	XLR	Mental retardation, X-linked syndromic 16
FGFR2	10q26.13		Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
FH	1q43	AR	Fumarase deficiency
FIG4	6q21	AR	Polymicrogyria, bilateral temporooccipital
FIG4	6q21	AR	Charcot-Marie-Tooth disease, type 4J
FIG4	6q21	AR	Yunis-Varon syndrome
FKRP	19q13.32	AR	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
FKRP	19q13.32	AR	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
FKRP	19q13.32	AR	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
FKTN	9q31.2	AR	Cardiomyopathy, dilated, 1X
FKTN	9q31.2	AR	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
FKTN	9q31.2	AR	Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
FKTN	9q31.2	AR	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
FLNA	Xq28	XL	FG syndrome 2
FLNA	Xq28	XL	Cardiac valvular dysplasia, X-linked
FLNA	Xq28	XLR	Congenital short bowel syndrome
FLNA	Xq28	XLR	Frontometaphyseal dysplasia 1
FLNA	Xq28	XLR	Intestinal pseudoobstruction, neuronal
FLVCR1	1q32.3	AR	Ataxia, posterior column, with retinitis pigmentosa
FOLR1	11q13.4	AR	Neurodegeneration due to cerebral folate transport deficiency
FOXN1	17q11.2	AR	T-cell immunodeficiency, congenital alopecia, and nail dystrophy
FOXP3	Xp11.23	XLR	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
FOXRED1	11q24.2	AR	Mitochondrial complex I deficiency, nuclear type 19
FRAS1	4q21.21	AR	Fraser syndrome 1
FREM2	13q13.3	AR	Cryptophthalmos, unilateral or bilateral, isolated
FREM2	13q13.3	AR	Fraser syndrome 2
FTCD	21q22.3	AR	Glutamate formiminotransferase deficiency
FTSJ1	Xp11.23	XLR	Mental retardation, X-linked 9/44
FUCA1	1p36.11	AR	Fucosidosis
FXN	9q21.11	AR	Friedreich ataxia
FXN	9q21.11	AR	Friedreich ataxia with retained reflexes
GCPC	17q21.31	AR	Glycogen storage disease Ia
GCPD	Xq28	XLR	Glucose-6-phosphate dehydrogenase deficiency
GAA	17q25.3	AR	Glycogen storage disease II
GALC	14q31.3	AR	Krabbe disease
GALE	1p36.11	AR	Galactose epimerase deficiency
GALK1	17q25.1	AR	Galactokinase deficiency with cataracts
GALNS	16q24.3	AR	Mucopolysaccharidosis IVA
GALNT3	2q24.3	AR	Tumoral calcinosis, hyperphosphatemic, familial, 1
GALT	9p13.3	AR	Galactosemia
GAMT	19p13.3	AR	Cerebral creatine deficiency syndrome 2
GAN	16q23.2	AR	Giant axonal neuropathy-1
GATA1	Xp11.23	XLR	Anemia, X-linked, with/without neutropenia and/or platelet abnormalities
GATA1	Xp11.23	XLR	Thrombocytopenia with beta-thalassaemia, X-linked
GATA1	Xp11.23	XLR	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
GBA	1q22	AR	Gaucher disease, perinatal lethal
GBA	1q22	AR	Gaucher disease, type I
GBA	1q22	AR	Gaucher disease, type II
GBA	1q22	AR	Gaucher disease, type III
GBA	1q22	AR	Gaucher disease, type IIIC
GBE1	3p12.2	AR	Glycogen storage disease IV
GCDH	19p13.13	AR	Glutaricaciduria, type I
GCH1	14q22.2	AD, AR	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
GCH1	14q22.2	AR	Hyperphenylalaninemia, BH4-deficient, B
GCSH	16q23.2	AR	Glycine encephalopathy
GDAP1	8q21.11	AD, AR	Charcot-Marie-Tooth disease, axonal, type 2K
GDAP1	8q21.11	AR	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
GDAP1	8q21.11	AR	Charcot-Marie-Tooth disease, recessive intermediate, A
GDAP1	8q21.11	AR	Charcot-Marie-Tooth disease, type 4A
GDF5	20q11.22	AR	Acromesomelic dysplasia, Hunter-Thompson type
GDF5	20q11.22	AD, AR	Brachydactyly, type A1, C
GDF5	20q11.22	AR	Chondrodysplasia, Grebe type
GDF5	20q11.22	AR	Du Pan syndrome
GFM1	3q25.32	AR	Combined oxidative phosphorylation deficiency 1
GFPT1	2p13.3	AR	Myasthenia, congenital, 12, with tubular aggregates
GH1	17q23.3	AR	Growth hormone deficiency, isolated, type IA
GH1	17q23.3	AR	Kowarski syndrome
GHRHR	7p14.3	AR	Growth hormone deficiency, isolated, type IV
GIPC3	19p13.3	AR	Deafness, autosomal recessive 15
GJB1	Xq13.1		Charcot-Marie-Tooth disease, 1
GJB3	1p34.3	AR, DD	Deafness, digenic, GJB2/GJB3
GJB3	1p34.3	AD, AR	Erythrokeratodermia variabilis et progressiva 1
GJBC	13q12.11	AR, DD	Deafness, digenic GJB2/GJB6
GJBC	13q12.11	AR	Deafness, autosomal recessive 1B
GJC2	1q42.13	AR	Leukodystrophy, hypomyelinating, 2
GJC2	1q42.13	AR	Spastic paraplegia 44, autosomal recessive
GLA	Xq22.1	XL	Fabry disease
GLA	Xq22.1	XL	Fabry disease, cardiac variant
GLB1	3p22.3	AR	GM1-gangliosidosis, type I
GLB1	3p22.3	AR	GM1-gangliosidosis, type II
GLB1	3p22.3	AR	GM1-gangliosidosis, type III
GLB1	3p22.3	AR	Mucopolysaccharidosis type IVB (Morquio)
GLDC	9p24.1	AR	Glycine encephalopathy
GLE1	9q34.11	AR	Congenital arthrogryposis with anterior horn cell disease
GLE1	9q34.11	AR	Lethal congenital contracture syndrome 1
GM2A	5q33.1	AR	GM2-gangliosidosis, AB variant
GNE	9p13.3	AR	Nonaka myopathy
GNMT	6p21.1	AR	Glycine N-methyltransferase deficiency
GNPAT	1q42.2	AR	Rhizomelic chondrodysplasia punctata, type 2
GNPTAB	12q23.2	AR	Mucolipidosis II alpha/beta
GNPTAB	12q23.2	AR	Mucolipidosis III alpha/beta
GNPTG	16p13.3	AR	Mucolipidosis III gamma
GNRHR	4q13.2	AR	Hypogonadotropic hypogonadism 7 without anosmia
GNS	12q14.3	AR	Mucopolysaccharidosis type IIID
GORAB	1q24.2	AR	Geroderma osteodysplasticum
GP1BA	17p13.2	AR	Nonarteritic anterior ischemic optic neuropathy, susceptibility to
GP1BA	17p13.2	AR	Bernard-Soulier syndrome, type A1 (recessive)
GP1BB	22q11.21	AR	Bernard-Soulier syndrome, type B
GP1BB	22q11.21	AR	Giant platelet disorder, isolated
GPS	3q21.3	AR	Bernard-Soulier syndrome, type C
GPR143	Xp22.2	XLR	Nystagmus 6, congenital, X-linked
GPR143	Xp22.2	XL	Ocular albinism, type I, Nettleship-Falls type
GPR5C	16q21	AR	Polymicrogyria, bilateral frontoparietal
GPRS8	5q14.3	AR, DD	Usher syndrome, type 2C, GPR98/PDZD7 digenic
GPRS8	5q14.3	AR, DD	Usher syndrome, type 2C
GPRS8	10q24.31	AR, DD	Usher syndrome, type IIC, GPR98/PDZD7 digenic
GPSM2	1p13.3	AR	Chudley-McCullough syndrome
GRHPR	9p13.2	AR	Hyperoxaluria, primary, type II
GRMC	5q35.3	AR	Night blindness, congenital stationary (complete), 1B, autosomal recessive
GRN	17q21.31	AR	Ceroid lipofuscinosis, neuronal, 11
GRXCR1	4p13	AR	Deafness, autosomal recessive 25
GSS	20q11.22	AR	Glutathione synthetase deficiency
GSS	20q11.22	AR	Hemolytic anemia due to glutathione synthetase deficiency
GTF2H5	6q25.3	AR	Trichothiodystrophy 3, photosensitive
GUCY2D	17p13.1	AD, AR	Cone-rod dystrophy 6
GUCY2D	17p13.1	AR	Leber congenital amaurosis 1
GUCY2D	17p13.1	AR	Night blindness, congenital stationary, type 1I
GUSB	7q11.21	AR	Mucopolysaccharidosis VII
HADH	4q25	AR	3-hydroxyacyl-CoA dehydrogenase deficiency
HADH	4q25	AR	Hyperinsulinemic hypoglycemia, familial, 4
HADHA	2p23.3	AR	Fatty liver, acute, of pregnancy
HADHA	2p23.3	AR	HELLP syndrome, maternal, of pregnancy
HADHA	2p23.3	AR	LCHAD deficiency
HADHA	2p23.3	AR	Mitochondrial trifunctional protein deficiency
HADHB	2p23.3	AR	Trifunctional protein deficiency
HAMP	19q13.12	AR	Hemochromatosis, type 2B
HARS2	5q31.3	AR	Perrault syndrome 2
HAX1	1q21.3	AR	Neutropenia, severe congenital 3, autosomal recessive
HBA1	16p13.3		Thalassaemia, alpha-
HBA2	16p13.3		Thalassaemia, alpha-
HBB	11p15.4	AR	Sickle cell anemia and Thalassaemia, beta-
HCFC1	Xq28	XLR	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )
HEPACAM	11q24.2	AR	Megalencephalic leukoencephalopathy with subcortical cysts 2A
HESX1	3p14.3	AD, AR	Growth hormone deficiency with pituitary anomalies
HESX1	3p14.3	AD, AR	Pituitary hormone deficiency, combined, 5
HESX1	3p14.3	AD, AR	Septo-optic dysplasia
HEXA	15q23	AR	Hex A pseudodeficiency
HEXA	15q23	AR	GM2-gangliosidosis, several forms
HEXA	15q23	AR	Tay-Sachs disease
HEXB	5q13.3	AR	Sandhoff disease, infantile, juvenile, and adult forms
HFE	6p22.2	AD, AR	Porphyria cutanea tarda, susceptibility to
HFE	6p22.2	AR	Hemochromatosis
HFE2	1q21.1	AR	Hemochromatosis, type 2A
HGD	3q13.33	AR	Alkaptonuria
HGF	7q21.11	AR	Deafness, autosomal recessive 39
HGSNAT	8p11.2-p11.1	AR	Mucopolysaccharidosis type IIIC (Sanfilippo C)
HGSNAT	8p11.2-p11.1	AR	Retinitis pigmentosa 73
HIBCH	2q32.2	AR	3-hydroxyisobutryl-CoA hydrolase deficiency
HLCS	21q22.13	AR	Holocarboxylase synthetase deficiency
HMGCL	1p36.11	AR	HMG-CoA lyase deficiency
HMGCS2	1p12	AR	HMG-CoA synthase-2 deficiency
HMOX1	22q12.3	AR	Heme oxygenase-1 deficiency
HOGA1	10q24.2	AR	Hyperoxaluria, primary, type III
HOGA1	10q24.2	AR	Tyrosinemia, type III
HPD	12q24.31	AR	Tyrosinemia, type III
HPRT1	Xq26.2-q26.3	XLR	HPRT-related gout
HPRT1	Xq26.2-q26.3	XLR	Lesch-Nyhan syndrome
HPS1	10q24.2	AR	Hermansky-Pudlak syndrome 1
HPS3	3q24	AR	Hermansky-Pudlak syndrome 3
HPS4	22q12.1	AR	Hermansky-Pudlak syndrome 4
HPS5	11p15.1	AR	Hermansky-Pudlak syndrome 5
HPSC	10q24.32	AR	Hermansky-Pudlak syndrome 6
HSD17B10	Xp11.22	XLR	Mental Retardation, Syndromic 10
HSD17B3	9q22.32	AR	Pseudohermaphroditism, male, with gynecomastia
HSD17B4	5q23.1	AR	D-bifunctional protein deficiency
HSD17B4	5q23.1	AR	Perrault syndrome 1
HSD3B2	1p12	AR	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
HSPD1	2q33.1	AR	Leukodystrophy, hypomyelinating, 4
HSPG2	1p36.12	AR	Dyssegmental dysplasia, Silverman-Handmaker type
HSPG2	1p36.12	AR	Schwartz-Jampel syndrome, type 1
HYAL1	3p21.31	AR	Mucopolysaccharidosis type IX
HYLS1	11q24.2	AR	Hydrolethalus syndrome
IDH3B	20p13		Retinitis pigmentosa 46
IDS	Xq28	XLR	Mucopolysaccharidosis II
IDUA	4p16.3	AR	Mucopolysaccharidosis Ih
IDUA	4p16.3	AR	Mucopolysaccharidosis Ih/s
IDUA	4p16.3	AR	Mucopolysaccharidosis Is
IFT80	3q25.33	AR	Short-rib thoracic dysplasia 2 with or without polydactyly
IGBP1	Xq13.1	XLR	Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
IGF1	12q23.2	AR	Growth retardation with deafness and mental retardation due to IGF1 deficiency
IGHMBP2	11q13.3	AR	Charcot-Marie-Tooth disease, axonal, type 2S
IGHMBP2	11q13.3	AR	Neuronopathy, distal hereditary motor, type VI
IKBKAP	9q31.3	AR	Dysautonomia, familial
IKBKG	Xq28	XLR	Ectodermal dysplasia and immunodeficiency 1
IKBKG	Xq28	XLR	Immunodeficiency 33
IL1RAPL1	Xp21.3-p21.2	XLR	Mental retardation, X-linked 21/34
IL2RG	Xq13.1	XLR	Combined immunodeficiency, X-linked, moderate
IL2RG	Xq13.1	XLR	Severe combined immunodeficiency, X-linked
ILDR1	3q13.33	AR	Deafness, autosomal recessive 42
INPP5E	9q34.3	AR	Joubert syndrome 1
INPP5E	9q34.3	AR	Mental retardation, truncal obesity, retinal dystrophy, and micropenis
INSR	19p13.2	AR	Leprechaunism
INSR	19p13.2	AR	Rabson-Mendenhall syndrome
INVS	9q31.1	AR	Nephronophthisis 2, infantile
ITGA2B	17q21.31	AR	Glanzmann thrombasthenia
ITGB3	17q21.32	AR	Glanzmann thrombasthenia
IǪCB1	3q13.33	AR	Senior-Loken syndrome 5
ISPD	7p21.2	AR	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
ISPD	7p21.2	AR	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
ITGAC	2q31.1	AR	Epidermolysis bullosa, junctional, with pyloric stenosis
ITGB4	17q25.1	AR	Epidermolysis bullosa, junctional, non-Herlitz type
ITGB4	17q25.1	AR	Epidermolysis bullosa, junctional, with pyloric atresia
IVD	15q15.1	AR	Isovaleric acidemia
IYD	6q25.1	AR	Thyroid dyshormonogenesis 4
JAK3	19p13.11	AR	SCID, autosomal recessive, T-negative/B-positive type
KCNJ1	11q24.3	AR	Bartter syndrome, type 2
KCNJ11	11p15.1	AR	Hyperinsulinemic hypoglycemia, familial, 2
KCNJ13	2q37.1	AR	Leber congenital amaurosis 16
KCNǪ1	11p15.5-p15.4	AR	Jervell and Lange-Nielsen syndrome
KCTD7	7q11.21	AR	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
KDM5C	Xp11.22	XLR	Mental retardation, X-linked, syndromic, Claes-Jensen type
KIF7	15q26.1	AR	Al-Gazali-Bakalinova syndrome
KIF7	15q26.1	AR	Hydrolethalus syndrome 2
KIF7	15q26.1	AR	Acrocallosal syndrome
KIF7	15q26.1	AR	Joubert syndrome 12
KLHL40	3p22.1	AR	Nemaline myopathy 8, autosomal recessive
L1CAM	Xq28	XLR	Corpus callosum, partial agenesis of
L1CAM	Xq28	XLR	CRASH syndrome
L1CAM	Xq28	XLR	Hydrocephalus due to aqueductal stenosis
L1CAM	Xq28	XLR	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction
L1CAM	Xq28	XLR	Hydrocephalus with Hirschsprung disease
L1CAM	Xq28	XLR	MASA syndrome
LAMA2	6q22.33	AR	Muscular dystrophy, congenital, merosin deficient or partially deficient
LAMA2	6q22.33	AR	Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA3	18q11.2	AR	Epidermolysis bullosa, generalized atrophic benign
LAMA3	18q11.2	AR	Epidermolysis bullosa, junctional, Herlitz type
LAMA3	18q11.2	AR	Laryngoonychocutaneous syndrome
LAMB2	3p21.31	AR	Pierson syndrome
LAMB3	1q32.2	AR	Epidermolysis bullosa, junctional, Herlitz type
LAMB3	1q32.2	AR	Epidermolysis bullosa, junctional, non-Herlitz type
LAMC2	1q25.3	AR	Epidermolysis bullosa, junctional, Herlitz type
LAMC2	1q25.3	AR	Epidermolysis bullosa, junctional, non-Herlitz type
LAMP2	Xq24	XL	Danon Disease (Lysosomal Glycogen Storage Disease without Acid Maltase)
LARGE	22q12.3	AR	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
LARGE	22q12.3	AR	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LARS	5q32	AR	Infantile liver failure syndrome 1
LBR	1q42.12	AR	Greenberg skeletal dysplasia
LCA5	6q14.1	AR	Leber congenital amaurosis 5
LDHA	11p15.1	AR	Glycogen storage disease XI
LDLR	19p13.2	AD,AR	Hypercholesterolemia, familial, 1
LDLR	19p13.2	AD,AR	LDL cholesterol level ǪTL2
LDLRAP1	1p36.11	AR	Hypercholesterolemia, familial, 4
LEPRE1	1p34.2	AR	Osteogenesis imperfecta, type VIII
LHCGR	2p16.3	AR	Leydig cell hypoplasia with hypergonadotropic hypogonadism
LHCGR	2p16.3	AR	Leydig cell hypoplasia with pseudohermaphroditism
LHCGR	2p16.3	AR	Luteinizing hormone resistance, female
LHFPL5	6p21.31	AR	Deafness, autosomal recessive 67
LHX3	9q34.3	AR	Pituitary hormone deficiency, combined, 3
LIAS	4p14	AR	Hyperglycinemia, lactic acidosis, and seizures
LIFR	5p13.1	AR	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome
LIPA	10q23.31	AR	Cholesteryl ester storage disease
LIPA	10q23.31	AR	Wolman disease
LIPH	3q27.2	AR	Hypotrichosis 7
LIPH	3q27.2	AR	Woolly hair, autosomal recessive 2 with or without hypotrichosis
LMBRD1	6q13	AR	Methylmalonic aciduria and homocystinuria, cblF type
LMNA	1q22	AR	Mandibuloacral dysplasia
LMNA	1q22	AR	Charcot-Marie-Tooth disease, type 2B1
LMNA	1q22	AD, AR	Hutchinson-Gilford progeria
LMNA	1q22	AR	Emery-Dreifuss muscular dystrophy 3, autosomal recessive
LMNA	1q22	AR	Restrictive dermopathy, lethal
LOXHD1	18q21.1	AR	Deafness, autosomal recessive 77
LPL	8p21.3	AR	High density lipoprotein cholesterol level ǪTL 11
LPL	8p21.3	AR	Lipoprotein lipase deficiency
LRAT	4q32.1	AR	Leber congenital amaurosis 14
LRAT	4q32.1	AR	Retinal dystrophy, early-onset severe
LRAT	4q32.1	AR	Retinitis pigmentosa, juvenile
LRP2	2q31.1	AR	Donnai-Barrow syndrome
LRP5	11q13.2	AD, AR	Exudative vitreoretinopathy 4
LRP5	11q13.2	AR	Osteoporosis-pseudoglioma syndrome
LRPPRC	2p21	AR	Leigh syndrome, French-Canadian type
LRTOMT	11q13.4	AR	Deafness, autosomal recessive 63
LYST	1q42.3	AR	Chediak-Higashi syndrome
MAN2B1	19p13.13	AR	Mannosidosis, alpha-, types I and II
MARS2	2q33.1	AR	Combined oxidative phosphorylation deficiency 25
MARS2	2q33.1	AR	Spastic ataxia 3, autosomal recessive
MARVELD2	5q13.2	AR	Deafness, autosomal recessive 49
MAT1A	10q22.3	AD, AR	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
MAT1A	10q22.3	AD, AR	Methionine adenosyltransferase deficiency, autosomal recessive
MATN3	2p24.1	AR	Spondyloepimetaphyseal dysplasia
MCCC1	3q27.1	AR	3-Methylcrotonyl-CoA carboxylase 1 deficiency
MCCC2	5q13.2	AR	3-Methylcrotonyl-CoA carboxylase 2 deficiency
MCEE	2p13.3	AR	Methylmalonyl-CoA epimerase deficiency
MCOLN1	19p13.2	AR	Mucolipidosis IV
MCPH1	8p23.1	AR	Microcephaly 1, primary, autosomal recessive
MECP2	Xq28	XL	Autism susceptibility, X-linked 3
MECP2	Xq28	XLR	Encephalopathy, neonatal severe
MECP2	Xq28	XLR	Mental retardation, X-linked syndromic, Lubs type
MECP2	Xq28	XLR	Mental retardation, X-linked, syndromic 13
MED12	Xq13.1	XLR	Lujan-Fryns syndrome
MED12	Xq13.1	XLR	Ohdo syndrome, X-linked
MED12	Xq13.1	XLR	Opitz-Kaveggia syndrome
MED17	11q21	AR	Microcephaly, postnatal progressive, with seizures and brain atrophy
MED25	19q13.33	AR	Basel-Vanagait-Smirin-Yosef syndrome
MEFV	16p13.3	AR	Familial Mediterranean fever, AR
MESP2	15q26.1	AR	Spondylocostal dysostosis 2, autosomal recessive
MFN2	1p36.22	AR	Charcot-Marie-Tooth disease, axonal, type 2A2B
MFSD8	4q28.2	AR	Ceroid lipofuscinosis, neuronal, 7
MFSD8	4q28.2	AR	Macular dystrophy with central cone involvement
MGAT2	14q21.3	AR	Congenital disorder of glycosylation, type IIa
MKKS	20p12.2	AR	Bardet-Biedl syndrome 6
MKKS	20p12.2	AR	McKusick-Kaufman syndrome
MKS1	17q22	AR	Bardet-Biedl syndrome 13
MKS1	17q22	AR	Joubert syndrome 28
MKS1	17q22	AR	Meckel syndrome 1
MLC1	22q13.33	AR	Megalencephalic leukoencephalopathy with subcortical cysts
MLYCD	16q23.3	AR	Malonyl-CoA decarboxylase deficiency
MMAA	4q31.21	AR	Methylmalonic aciduria, vitamin B12-responsive
MMAB	12q24.11	AR	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
MMACHC	1p34.1	AR	Methylmalonic aciduria and homocystinuria, cblC type
MMADHC	2q23.2	AR	Homocystinuria, cblD type, variant 1
MMADHC	2q23.2	AR	Methylmalonic aciduria and homocystinuria, cblD type
MMADHC	2q23.2	AR	Methylmalonic aciduria, cblD type, variant 2
MOCS1	6p21.2	AR	Molybdenum cofactor deficiency A
MOCS2	5q11.2	AR	Molybdenum cofactor deficiency B
MOGS	2p13.1	AR	Congenital disorder of glycosylation, type IIb
MPC1	6q27	AR	Mitochondrial pyruvate carrier deficiency
MPI	15q24.1-q24.2	AR	Congenital disorder of glycosylation, type Ib
MPL	1p34.2	AR	Thrombocytopenia, congenital amegakaryocytic
MPV17	2p23.3	AR	Charcot-Marie-Tooth disease, axonal, type 2EE
MPV17	2p23.3	AR	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MPZ	1q23.3	AD, AR	Dejerine-Sottas disease
MRE11A	11q21	AR	Ataxia-telangiectasia-like disorder 1
MRPS1C	10q22.2	AR	Combined oxidative phosphorylation deficiency 2
MRPS22	3q23	AR	Combined oxidative phosphorylation deficiency 5
MRPS22	3q23	AR	Ovarian dysgenesis 7
MTFMT	15q22.31	AR	Combined oxidative phosphorylation deficiency 15
MTFMT	15q22.31	AR	Mitochondrial complex I deficiency, nuclear type 27
MTHFR	1p36.22	AR	Neural tube defects, susceptibility to
MTHFR	1p36.22	AR	Homocystinuria due to MTHFR deficiency
MTM1	Xq28	XLR	Myotubular myopathy, X-linked
MTMR2	11q21	AR	Charcot-Marie-Tooth disease, type 4B1
MTO1	6q13	AR	Combined oxidative phosphorylation deficiency 10
MTPAP	10p11.23	AR	Spastic ataxia 4, autosomal recessive
MTR	1q43	AR	Neural tube defects, folate-sensitive, susceptibility to
MTR	1q43	AR	Homocystinuria-megaloblastic anemia, cblG complementation type
MTRR	5p15.31	AR	Neural tube defects, folate-sensitive, susceptibility to
MTRR	5p15.31	AR	Homocystinuria-megaloblastic anemia, cbl E type
MTTP	4q23	AR	Abetalipoproteinemia
MUT	6p12.3	AR	Methylmalonic aciduria, mut(0) type
MVK	12q24.11	AR	Hyper-IgD syndrome
MVK	12q24.11	AR	Mevalonic aciduria
MYO15A	17p11.2	AR	Deafness, autosomal recessive 3
MYO5A	15q21.2	AR	Griscelli syndrome, type 1
MYOC	6q14.1	AR	Deafness, autosomal recessive 37
MYO7A	11q13.5	AR	Deafness, autosomal recessive 2
MYO7A	11q13.5	AR	Usher syndrome, type 1B
NADK2	5p13.2	AR	2,4-dienoyl-CoA reductase deficiency
NAGA	22q13.2	AR	Kanzaki disease
NAGA	22q13.2	AR	Schindler disease, type I
NAGA	22q13.2	AR	Schindler disease, type III
NAGLU	17q21.2	AR	Mucopolysaccharidosis type IIIB (Sanfilippo B)
NAGS	17q21.31	AR	N-acetylglutamate synthase deficiency
NBN	8q21.3	AR	Nijmegen breakage syndrome
NCF1	7q11.23	AR	Chronic granulomatous disease 1, autosomal recessive
NCF2	1q25.3	AR	Chronic granulomatous disease due to deficiency of NCF-2
NCF4	22q12.3	AR	Chronic granulomatous disease 3, autosomal recessive
NDP	Xp11.3	XLD, XLR	Exudative vitreoretinopathy 2, X-linked
NDP	Xp11.3	XLR	Norrie disease
NDRG1	8q24.22	AR	Charcot-Marie-Tooth disease, type 4D
NDUFA1	Xq24	XLR	Mitochondrial complex I deficiency, nuclear type 12
NDUFA11	19p13.3	AR	Mitochondrial complex I deficiency, nuclear type 14
NDUFAF2	5q12.1	AR	Mitochondrial complex I deficiency, nuclear type 10
NDUFAF3	3p21.31	AR	Mitochondrial complex I deficiency, nuclear type 18
NDUFAF4	6q16.1	AR	Mitochondrial complex I deficiency, nuclear type 15
NDUFAF5	20p12.1	AR	Mitochondrial complex I deficiency, nuclear type 16
NDUFAFC	8q22.1	AR	Fanconi renotubular syndrome 5
NDUFAFC	8q22.1	AR	Mitochondrial complex I deficiency, nuclear type 17
NDUFB3	2q33.1	AR	Mitochondrial complex I deficiency, nuclear type 25
NDUFS1	2q33.3	AR	Mitochondrial complex I deficiency, nuclear type 5
NDUFS2	1q23.3	AR	Mitochondrial complex I deficiency, nuclear type 6
NDUFS3	11p11.2	AR	Mitochondrial complex I deficiency, nuclear type 8
NDUFS4	5q11.2	AR	Mitochondrial complex I deficiency, nuclear type 1
NDUFSC	5p15.33	AR	Mitochondrial complex I deficiency, nuclear type 9
NDUFS7	19p13.3	AR	Mitochondrial complex I deficiency, nuclear type 3
NDUFS8	11q13.2	AR	Mitochondrial complex I deficiency, nuclear type 2
NDUFV1	11q13.2	AR	Mitochondrial complex I deficiency, nuclear type 4
NEB	2q23.3	AR	Nemaline myopathy 2, autosomal recessive
NEK1	4q33	AR, DR	Short-rib thoracic dysplasia 6 with or without polydactyly
NEU1	6p21.33	AR	Sialidosis, type I
NEU1	6p21.33	AR	Sialidosis, type II
NEUROG3	10q22.1	AR	Diarrhea 4, malabsorptive, congenital
NFU1	2p13.3	AR	Multiple mitochondrial dysfunctions syndrome 1
NGLY1	3p24.2	AR	Congenital disorder of deglycosylation
NHLRC1	6p22.3	AR	Epilepsy, progressive myoclonic 2B (Lafora)
NHP2	5q35.3	AR	Dyskeratosis congenita, autosomal recessive 2
NLRP7	19q13.42	AR	Hydatidiform mole, recurrent, 1
NMNAT1	1p36.22	AR	Leber congenital amaurosis 9
NOP10	15q14	AR	Dyskeratosis congenita, autosomal recessive 1
NPC1	18q11.2	AR	Niemann-Pick disease, type C1
NPC1	18q11.2	AR	Niemann-Pick disease, type D
NPC2	14q24.3	AR	Niemann-pick disease, type C2
NPHP1	2q13	AR	Joubert syndrome 4
NPHP1	2q13	AR	Nephronophthisis 1, juvenile
NPHP1	2q13	AR	Senior-Loken syndrome-1
NPHP3	3q22.1	AR	Meckel syndrome 7
NPHP3	3q22.1	AR	Nephronophthisis 3
NPHP3	3q22.1	AR	Renal-hepatic-pancreatic dysplasia 1
NPHP4	1p36.31	AR	Nephronophthisis 4
NPHP4	1p36.31	AR	Senior-Loken syndrome 4
NPHS1	19q13.12	AR	Nephrotic syndrome, type 1
NPHS2	1q25.2	AR	Nephrotic syndrome, type 2
NR0B1	Xp21.2	XL	46XY sex reversal 2, dosage-sensitive
NR0B1	Xp21.2	XLR	Adrenal hypoplasia, congenital
NTRK1	1q23.1	AR	Insensitivity to pain, congenital, with anhidrosis
NUBPL	14q12	AR	Mitochondrial complex I deficiency, nuclear type 21
NUPC2	19q13.33	AR	Striatonigral degeneration, infantile
NYX	Xp11.4	XLR	Night blindness, congenital stationary (complete), 1A, X-linked
OAT	10q26.13	AR	Gyrate atrophy of choroid and retina with or without ornithinemia
OCA2	15q12-q13	AR	Skin/hair/eye pigmentation 1, blond/brown hair
OCA2	15q12-q13	AR	Skin/hair/eye pigmentation 1, blue/nonblue eyes
OCA2	15q12-q13	AR	Albinism, brown oculocutaneous
OCA2	15q12-q13	AR	Albinism, oculocutaneous, type II
OCRL	Xq26.1	XLR	Dent disease 2
OCRL	Xq26.1	XLR	Lowe syndrome
OFD1	Xp22.2	XLR	Retinitis pigmentosa 23
OFD1	Xp22.2	XLR	Joubert syndrome 10
OFD1	Xp22.2	XLR	Simpson-Golabi-Behmel syndrome, type 2
OPA3	19q13.32	AR	3-methylglutaconic aciduria, type III
OPHN1	Xq12	XLR	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
OSTM1	6q21	AR	Osteopetrosis, autosomal recessive 5
OTC	Xp11.4	XLR	Ornithine transcarbamylase deficiency
OTOA	16p12.2	AR	Deafness, autosomal recessive 22
OTOF	2p23.3	AR	Auditory neuropathy, autosomal recessive, 1
OTOF	2p23.3	AR	Deafness, autosomal recessive 9
OXCT1	5p13.1	AR	Succinyl CoA:3-oxoacid CoA transferase deficiency
PAH	12q23.2	AR	Hyperphenylalaninemia, non-PKU mild
PAH	12q23.2	AR	Phenylketonuria
PAK3	Xq23	XLR	Mental retardation, X-linked 30/47
PANK2	20p13	AR	HARP syndrome
PANK2	20p13	AR	Neurodegeneration with brain iron accumulation 1
PAX8	2q14.1		Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
PC	11q13.2	AR	Pyruvate carboxylase deficiency
PCBD1	10q22.1	AR	Hyperphenylalaninemia, BH4-deficient, D
PCCA	13q32.3	AR	Propionicacidemia
PCCB	3q22.3	AR	Propionicacidemia
PCDH15	10q21.1	AR	Deafness, autosomal recessive 23
PCDH15	10q21.1	AR, DR	Usher syndrome, type 1D/F digenic
PCDH15	10q21.1	AR	Usher syndrome, type 1F
PDECA	5q32	AR	Retinitis pigmentosa 43
PDECC	10q23.33	AR	Cone dystrophy 4
PDHA1	Xp22.12	XL	Pyruvate dehydrogenase E1-alpha deficiency
PDHB	3p14.3	AR	Pyruvate dehydrogenase E1-beta deficiency
PDHX	11p13	AR	Lacticacidemia due to PDX1 deficiency
PDP1	8q22.1	AR	Pyruvate dehydrogenase phosphatase deficiency
PDSS1	10p12.1	AR	Coenzyme Ǫ10 deficiency, primary, 2
PDSS2	6q21	AR	Coenzyme Ǫ10 deficiency, primary, 3
PDZD7	10q24.31	AR	Retinal disease in Usher syndrome type IIA, modifier of
PDZD7	10q24.31	AR	Deafness, autosomal recessive 57
PDZD7	10q24.31	AR, DD	Usher syndrome, type IIC, GPR98/PDZD7 digenic
PEPD	19q13.11	AR	Prolidase deficiency
PET100	19p13.2	AR, Mi	Mitochondrial complex IV deficiency
PEX1	7q21.2	AR	Heimler syndrome 1
PEX1	7q21.2	AR	Peroxisome biogenesis disorder 1A (Zellweger)
PEX1	7q21.2	AR	Peroxisome biogenesis disorder 1B (NALD/IRD)
PEX10	1p36.32	AR	Peroxisome biogenesis disorder 6A (Zellweger)
PEX10	1p36.32	AR	Peroxisome biogenesis disorder 6B
PEX12	17q12	AR	Peroxisome biogenesis disorder 3A (Zellweger)
PEX12	17q12	AR	Peroxisome biogenesis disorder 3B
PEX2	8q21.13	AR	Peroxisome biogenesis disorder 5A (Zellweger)
PEX2	8q21.13	AR	Peroxisome biogenesis disorder 5B
PEX2C	22q11.21	AR	Peroxisome biogenesis disorder 7A (Zellweger)
PEX2C	22q11.21	AR	Peroxisome biogenesis disorder 7B
PEXC	6p21.1	AR	Heimler syndrome 2
PEXC	6p21.1	AR	Peroxisome biogenesis disorder 4A (Zellweger)
PEXC	6p21.1	AD, AR	Peroxisome biogenesis disorder 4B
PEX7	6q23.3	AR	Peroxisome biogenesis disorder 9B
PEX7	6q23.3	AR	Rhizomelic chondrodysplasia punctata, type 1
PFKM	12q13.11	AR	Glycogen storage disease VII
PGK1	Xq21.1	XLR	Phosphoglycerate kinase 1 deficiency
PHF8	Xp11.22	XLR	Mental retardation syndrome, X-linked, Siderius type
PHGDH	1p12	AR	Neu-Laxova syndrome 1
PHGDH	1p12	AR	Phosphoglycerate dehydrogenase deficiency
PHYH	10p13	AR	Refsum disease
PKHD1	6p12.3-p12.2	AR	Polycystic kidney disease 4, with or without hepatic disease
PKLR	1q22	AR	Pyruvate kinase deficiency
PLA2GC	22q13.1	AR	Infantile neuroaxonal dystrophy 1
PLA2GC	22q13.1	AR	Neurodegeneration with brain iron accumulation 2B
PLA2GC	22q13.1	AR	Parkinson disease 14, autosomal recessive
PLCE1	10q23.33	AR	Nephrotic syndrome, type 3
PLEC	8q24.3	AR	Epidermolysis bullosa simplex with nail dystrophy
PLEC	8q24.3	AR	Epidermolysis bullosa simplex with muscular dystrophy
PLEC	8q24.3	AR	Epidermolysis bullosa simplex with pyloric atresia
PLEC	8q24.3	AR	Muscular dystrophy, limb-girdle, autosomal recessive 17
PLEKHG5	1p36.31	AR	Charcot-Marie-Tooth disease, recessive intermediate C
PLEKHG5	1p36.31	AR	Spinal muscular atrophy, distal, autosomal recessive, 4
PLG	6q26	AR	Dysplasminogenemia
PLG	6q26	AR	Plasminogen deficiency, type I
PLOD1	1p36.22	AR	Ehlers-Danlos syndrome, kyphoscoliotic type, 1
PLP1	Xq22.2	XLR	Pelizaeus-Merzbacher disease
PLP1	Xq22.2	XLR	Spastic paraplegia 2, X-linked
PMM2	16p13.2	AR	Congenital disorder of glycosylation, type Ia
PMP22	17p12	AD, AR	Dejerine-Sottas disease
PNP	14q11.2	AR	Immunodeficiency due to purine nucleoside phosphorylase deficiency
PNPO	17q21.32	AR	Pyridoxamine 5'-phosphate oxidase deficiency
POLG	15q26.1	AR	Mitochondrial DNA depletion syndrome 4A (Alpers type)
POLG	15q26.1	AR	Mitochondrial DNA depletion syndrome 4B (MNGIE type)
POLG	15q26.1	AR	Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
POLG	15q26.1	AR	Progressive external ophthalmoplegia, autosomal recessive 1
POLR1C	6p21.1	AR	Leukodystrophy, hypomyelinating, 11
POLR1C	6p21.1	AR	Treacher Collins syndrome 3
POMT1	9q34.13	AR	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
POMT1	9q34.13	AR	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
POMT1	9q34.13	AR	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
POMT2	14q24.3	AR	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
POMT2	14q24.3	AR	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
POMT2	14q24.3	AR	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
POR	7q11.23	AR	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
POU1F1	3p11.2	AD, AR	Pituitary hormone deficiency, combined, 1
POU3F4	Xq21.1	XLR	Deafness, X-linked 2
PPIB	15q22.31	AR	Osteogenesis imperfecta, type IX
PPT1	1p34.2	AR	Ceroid lipofuscinosis, neuronal, 1
PǪBP1	Xp11.23	XLR	Renpenning syndrome
PRF1	10q22.1	AR	Hemophagocytic lymphohistiocytosis, familial, 2
PRKAG2	7q36.1		Glycogen Storage Disease of Heart, Lethal Congenital
PRODH	22q11.21	AR	Hyperprolinemia, type I
PROP1	5q35.3	AR	Pituitary hormone deficiency, combined, 2
PRPS1	Xq22.3	XLR	Arts syndrome
PRPS1	Xq22.3	XLR	Charcot-Marie-Tooth disease, X-linked recessive, 5
PRPS1	Xq22.3	XL	Deafness, X-linked 1
PRPS1	Xq22.3	XLR	Gout, PRPS-related
PRPS1	Xq22.3	XLR	Phosphoribosylpyrophosphate synthetase superactivity
PRSS12	4q26	AR	Mental retardation, autosomal recessive 1
PRX	19q13.2	AR	Charcot-Marie-Tooth disease, type 4F
PRX	19q13.2	AD, AR	Dejerine-Sottas disease
PSAP	10q22.1	AR	Combined SAP deficiency
PSAP	10q22.1	AR	Krabbe disease, atypical
PSAP	10q22.1	AR	Metachromatic leukodystrophy due to SAP-b deficiency
PTH1R	3p21.31	AR	Chondrodysplasia, Blomstrand type
PTH1R	3p21.31	AR	Eiken syndrome
PTPRǪ	12q21.31	AR	Deafness, autosomal recessive 84A
PTS	11q23.1	AR	Hyperphenylalaninemia, BH4-deficient, A
PUS1	12q24.33	AR	Myopathy, lactic acidosis, and sideroblastic anemia 1
PYGL	14q22.1	AR	Glycogen storage disease VI
PYGM	11q13.1	AR	McArdle disease
ǪDPR	4p15.32	AR	Hyperphenylalaninemia, BH4-deficient, C
RAB23	6p12.1-p11.2	AR	Carpenter syndrome
RAB27A	15q21.3	AR	Griscelli syndrome, type 2
RAB3GAP1	2q21.3	AR	Warburg micro syndrome 1
RAB3GAP2	1q41	AR	Martsolf syndrome
RAB3GAP2	1q41	AR	Warburg micro syndrome 2
RAG1	11p12	AR	Combined cellular and humoral immune defects with granulomas
RAG1	11p12	AR	Omenn syndrome
RAG1	11p12	AR	Severe combined immunodeficiency, B cell-negative
RAG2	11p12	AR	Combined cellular and humoral immune defects with granulomas
RAG2	11p12	AR	Omenn syndrome
RAG2	11p12	AR	Severe combined immunodeficiency, B cell-negative
RAPSN	11p11.2	AR	Fetal akinesia deformation sequence 2
RAPSN	11p11.2	AR	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
RARS2	6q15	AR	Pontocerebellar hypoplasia, type 6
RAX	18q21.32	AR	Microphthalmia, isolated 3
RD3	1q32.3	AR	Leber congenital amaurosis 12
RDH12	14q24.1	AD, AR	Leber congenital amaurosis 13
RDX	11q22.3	AR	Deafness, autosomal recessive 24
RECǪL4	8q24.3	AR	Baller-Gerold syndrome
RECǪL4	8q24.3	AR	RAPADILINO syndrome
RECǪL4	8q24.3	AR	Rothmund-Thomson syndrome, type 2,
RELN	7q22.1	AR	Renal tubular dysgenesis
RELN	7q22.1	AR	Lissencephaly 2 (Norman-Roberts type)
REN	1q32.1	AR	Renal tubular dysgenesis
RFT1	3p21.1	AR	Congenital disorder of glycosylation, type In
RFX5	1q21.3	AR	Bare lymphocyte syndrome, type II, complementation group C
RFX5	1q21.3	AR	Bare lymphocyte syndrome, type II, complementation group E
RFXANK	19p13.11	AR	MHC class II deficiency, complementation group B
RFXAP	13q13.3	AR	Bare lymphocyte syndrome, type II, complementation group D
RHO	3q22.1	AD AR	Retinitis pigmentosa 4, autosomal dominant or recessive
RLBP1	15q26.1	AR	Bothnia retinal dystrophy
RLBP1	15q26.1	AD, AR	Fundus albipunctatus
RLBP1	15q26.1	AD, AR	Retinitis punctata albescens
RMND1	6q25.1	AR	Combined oxidative phosphorylation deficiency 11
RNASEH2A	19p13.13	AR	Aicardi-Goutieres syndrome 4
RNASEH2B	13q14.3	AR	Aicardi-Goutieres syndrome 2
RNASEH2C	11q13.1	AR	Aicardi-Goutieres syndrome 3
RNASET2	6q27	AR	Leukoencephalopathy, cystic, without megalencephaly
RP2	Xp11.3	XL	Retinitis pigmentosa 2
RPEC5	1p31.3	AR	Leber congenital amaurosis 2
RPEC5	1p31.3	AR	Retinitis pigmentosa 20
RPGR	Xp11.4	XL	Cone-rod dystrophy, X-linked, 1
RPGR	Xp11.4	XLR	Macular degeneration, X-linked atrophic
RPGRIP1	14q11.2	AR	Leber congenital amaurosis 6
RPGRIP1L	16q12.2	AR	COACH syndrome
RPGRIP1L	16q12.2	AR	Joubert syndrome 7
RPGRIP1L	16q12.2	AR	Meckel syndrome 5
RPSCKA3	Xp22.12	XL	Coffin-Lowry syndrome
RRM2B	8q22.3	AR	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
RRM2B	8q22.3	AR	Mitochondrial DNA depletion syndrome 8B (MNGIE type)
RS1	Xp22.13	XLR	Retinoschisis
RTEL1	20q13.33	AD, AR	Dyskeratosis congenita, autosomal dominant 4
RTEL1	20q13.33	AD, AR	Dyskeratosis congenita, autosomal recessive 5
RYR1	19q13.2	AR	Minicore myopathy with external ophthalmoplegia
RYR1	19q13.2	AD, AR	Central core disease
RYR1	19q13.2	AD, AR	Neuromuscular disease, congenital, with uniform type 1 fiber
SACS	13q12.12	AR	Spastic ataxia, Charlevoix-Saguenay type
SAMDS	7q21.2	AR	Tumoral calcinosis, familial, normophosphatemic
SAMHD1	20q11.23	AR	Aicardi-Goutieres syndrome 5
SARS2	19q13.2	AR	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SBDS	7q11.21	AR	Shwachman-Diamond syndrome
SBF2	11p15.4	AR	Charcot-Marie-Tooth disease, type 4B2
SC5D	11q23.3-q24.1	AR	Lathosterolosis
SCNN1A	12p13.31	AR	Pseudohypoaldosteronism, type I
SCNN1B	16p12.2	AR	Pseudohypoaldosteronism, type I
SCNN1G	16p12.2	AR	Pseudohypoaldosteronism, type I
SCO1	17p13.1	AR, Mi	Mitochondrial complex IV deficiency
SCO2	22q13.33	AR	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
SDHA	5p15.33	AR	Cardiomyopathy, dilated, 1GG
SDHA	5p15.33	AR, Mi	Leigh syndrome
SDHA	5p15.33	AR	Mitochondrial respiratory chain complex II deficiency
SDHAF1	19q13.12	AR	Mitochondrial complex II deficiency
SEPN1	1p36.11	AR	Muscular dystrophy, rigid spine, 1
SEPSECS	4p15.2	AR	Pontocerebellar hypoplasia type 2D
SERAC1	6q25.3	AR	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SERPINA1	14q32.13	AR	Emphysema due to AAT deficiency
SERPINA1	14q32.13	AR	Emphysema-cirrhosis, due to AAT deficiency
SERPINA1	14q32.13	AR	Hemorrhagic diathesis due to antithrombin Pittsburgh
SGCA	17q21.33	AR	Muscular dystrophy, limb-girdle, autosomal recessive 3
SGCB	4q12	AR	Muscular dystrophy, limb-girdle, autosomal recessive 4
SGCD	5q33.2-q33.3	AR	Muscular dystrophy, limb-girdle, autosomal recessive 6
SGCG	5q33.2-q33.3	AR	Muscular dystrophy, limb-girdle, autosomal recessive 6
SGSH	17q25.3	AR	Mucopolysaccharidosis type IIIA (Sanfilippo A)
SH2D1A	Xq25	XLR	Lymphoproliferative syndrome, X-linked, 1
SH3TC2	5q32	AR	Charcot-Marie-Tooth disease, type 4C
SIL1	5q31.2	AR	Marinesco-Sjogren syndrome
SIXC	14q23.1	AR	Optic disc anomalies with retinal and/or macular dystrophy
SLC12A1	15q21.1	AR	Bartter syndrome, type 1
SLC12A3	16q13	AR	Gitelman syndrome
SLC12AC	15q14	AR	Agenesis of the corpus callosum with peripheral neuropathy
SLC1CA2	Xq13.2	XL	Allan-Herndon-Dudley syndrome
SLC17A5	6q13	AR	Salla disease
SLC17A5	6q13	AR	Sialic acid storage disorder, infantile
SLC1SA2	1q24.2	AR	Thiamine-responsive megaloblastic anemia syndrome
SLC1SA3	2q36.3	AR	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
SLC22A5	5q31.1	AR	Carnitine deficiency, systemic primary
SLC24A1	15q22.31	AR	Night blindness, congenital stationary (complete), 1D, autosomal recessive
SLC25A13	7q21.3	AR	Citrullinemia, adult-onset type II
SLC25A13	7q21.3	AR	Citrullinemia, type II, neonatal-onset
SLC25A15	13q14.11	AR	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A20	3p21.31	AR	Carnitine-acylcarnitine translocase deficiency
SLC25A22	11p15.5	AR	Epileptic encephalopathy, early infantile, 3
SLC25A3	12q23.1	AR	Mitochondrial phosphate carrier deficiency
SLC25A4	4q35.1	AR	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR
SLC2CA1	4p16.3	AR	Nephrolithiasis, calcium oxalate
SLC2CA2	5q32	AR	Achondrogenesis Ib
SLC2CA2	5q32	AR	Atelosteogenesis, type II
SLC2CA2	5q32	AR	De la Chapelle dysplasia
SLC2CA2	5q32	AR	Diastrophic dysplasia
SLC2CA2	5q32	AR	Diastrophic dysplasia, broad bone-platyspondylic variant
SLC2CA2	5q32	AR	Epiphyseal dysplasia, multiple, 4
SLC2CA3	7q22.3-q31.1	AR	Diarrhea 1, secretory chloride, congenital
SLC2CA4	7q22.3	AR	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
SLC2CA4	7q22.3	AR	Pendred syndrome
SLC2SA3	10q22.1	AR	Histiocytosis-lymphadenopathy plus syndrome
SLC34A3	9q34.3	AR	Hypophosphatemic rickets with hypercalciuria
SLC35A1	6q15	AR	Congenital disorder of glycosylation, type IIf
SLC35A3	1p21.2	AR	Arthrogryposis, mental retardation, and seizures
SLC35C1	11p11.2	AR	Congenital disorder of glycosylation, type IIc
SLC35D1	1p31.3	AR	Schneckenbecken dysplasia
SLC37A4	11q23.3	AR	Glycogen storage disease Ib
SLC37A4	11q23.3	AR	Glycogen storage disease Ic
SLC3SA4	8q24.3	AR	Acrodermatitis enteropathica
SLC3A1	2p21	AD, AR	Cystinuria
SLC45A2	5p13.2	AR	Skin/hair/eye pigmentation 5, black/nonblack hair
SLC45A2	5p13.2	AR	Skin/hair/eye pigmentation 5, dark/fair skin
SLC45A2	5p13.2	AR	Skin/hair/eye pigmentation 5, dark/light eyes
SLC45A2	5p13.2	AR	Albinism, oculocutaneous, type IV
SLC4CA1	17q11.2	AR	Folate malabsorption, hereditary
SLC4A11	20p13	AR	Corneal endothelial dystrophy and perceptive deafness
SLC4A11	20p13	AR	Corneal endothelial dystrophy, autosomal recessive
SLC5A5	19p13.11	AR	Thyroid dyshormonogenesis 1
SLCCA1S	5p15.33	AR	Hartnup disorder
SLCCA1S	5p15.33	AR, DR	Iminoglycinuria, digenic
SLCCA8	Xq28	XLR	Cerebral creatine deficiency syndrome 1
SLC7A7	14q11.2	AR	Lysinuric protein intolerance
SLCSAC	Xq26.3	XL	Mental retardation, X-linked syndromic, Christianson type
SMARCAL1	2q35	AR	Schimke immunoosseous dysplasia
SMN1	5q13.2	AR	Spinal muscular atrophy-1
SMN1	5q13.2	AR	Spinal muscular atrophy-2
SMN1	5q13.2	AR	Spinal muscular atrophy-3
SMN1	5q13.2	AR	Spinal muscular atrophy-4
SMPD1	11p15.4	AR	Niemann-Pick disease, type A
SMPD1	11p15.4	AR	Niemann-Pick disease, type B
SNAI2	8q11.21	AR	Waardenburg syndrome, type 2D
SNAP2S	22q11.21	AR	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
SP110	2q37.1	AR	Hepatic venoocclusive disease with immunodeficiency
SPATA7	14q31.3	AR	Leber congenital amaurosis 3
SPATA7	14q31.3	AR	Retinitis pigmentosa, juvenile
SPG11	15q21.1	AR	Amyotrophic lateral sclerosis 5, juvenile
SPG11	15q21.1	AR	Charcot-Marie-Tooth disease, axonal, type 2X
SPG11	15q21.1	AR	Spastic paraplegia 11, autosomal recessive
SPG7	16q24.3	AD, AR	Spastic paraplegia 7, autosomal recessive
ST3GAL3	1p34.1	AR	Epileptic encephalopathy, early infantile, 15
ST3GAL3	1p34.1	AR	Mental retardation, autosomal recessive 12
ST3GAL5	2p11.2	AR	Salt and pepper developmental regression syndrome
STAR	8p11.23	AR	Lipoid Congenital Adrenal Hyperplasia
STIL	1p33	AR	Microcephaly 7, primary, autosomal recessive
STRAC	15q24.1	AR	Microphthalmia, isolated, with coloboma 8
STRAC	15q24.1	AR	Microphthalmia, syndromic 9
STS	Xp22.31	XLR	Ichthyosis, X-linked
SUCLA2	13q14.2	AR	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
SUCLG1	2p11.2	AR	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
SUMF1	3p26.1	AR	Multiple sulfatase deficiency
SUOX	12q13.2	AR	Sulfite oxidase deficiency
SURF1	9q34.2	AR	Charcot-Marie-Tooth disease, type 4K
SURF1	9q34.2	AR, Mi	Leigh syndrome, due to COX IV deficiency
SYN1	Xp11.3-p11.2	XLD, XLR	Epilepsy, X-linked, with variable learning disabilities and behavior disorders
TAF1	Xq13.1	XLR	Dystonia-Parkinsonism, X-linked
TAF1	Xq13.1	XLR	Mental retardation, X-linked, syndromic 33
TAP1	6p21.32	AR	Bare lymphocyte syndrome, type I
TAT	16q22.2	AR	Tyrosinemia, type II
TAZ	Xq28	XLR	Barth syndrome
TBCE	1q42.3	AR	Encephalopathy, progressive, with amyotrophy and optic atrophy
TBCE	1q42.3	AR	Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE	1q42.3	AR	Kenny-Caffey syndrome, type 1
TCAP	17q12	AR	Muscular dystrophy, limb-girdle, autosomal recessive 7
TCIRG1	11q13.2	AR	Osteopetrosis, autosomal recessive 1
TCN2	22q12.2	AR	Transcobalamin II deficiency
TCTN1	12q24.11	AR	Joubert syndrome 13
TCTN3	10q24.1	AR	Joubert syndrome 18
TCTN3	10q24.1	AR	Orofaciodigital syndrome IV
TECPR2	14q32.31	AR	Spastic paraplegia 49, autosomal recessive
TECTA	11q23.3	AR	Deafness, autosomal recessive 21
TERT	5p15.33	AD, AR	Dyskeratosis congenita, autosomal dominant 2
TERT	5p15.33	AD, AR	Dyskeratosis congenita, autosomal recessive 4
TFR2	7q22.1	AR	Hemochromatosis, type 3
TG	8q24.22	AR	Thyroid dyshormonogenesis 3
TGM1	14q12	AR	Ichthyosis, congenital, autosomal recessive 1
TH	11p15.5	AR	Segawa syndrome, recessive
THOC2	Xq25	XLR	Mental retardation, X-linked 12/35
THRA	17q21.1		Hypothyroidism, congenital, nongoitrous
THRB	3p24.2	AR	Thyroid hormone resistance, autosomal recessive
TIMM8A	Xq22.1	XLR	Mohr-Tranebjaerg syndrome
TJP2	9q21.11	AR	Cholestasis, progressive familial intrahepatic 4
TJP2	9q21.11	AR	Hypercholanemia, familial
TK2	16q21	AR	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
TK2	16q21	AR	Mitochondrial DNA depletion syndrome 2 (myopathic type)
TMC1	9q21.13	AR	Deafness, autosomal recessive 7
TMEM138	11q12.2	AR	Joubert syndrome 16
TMEM21C	11q12.2	AR	Joubert syndrome 2
TMEM21C	11q12.2	AR	Meckel syndrome 2
TMEM231	16q23.1	AR	Joubert syndrome 20
TMEM231	16q23.1	AR	Meckel syndrome 11
TMEM237	2q33.1	AR	Joubert syndrome 14
TMEMC7	8q22.1	AR	RHYNS syndrome
TMEMC7	8q22.1	AR	Bardet-Biedl syndrome 14, modifier of
TMEMC7	8q22.1	AR	COACH syndrome
TMEMC7	8q22.1	AR	Joubert syndrome 6
TMEMC7	8q22.1	AR	Meckel syndrome 3
TMEMC7	8q22.1	AR	Nephronophthisis 11
TMEM70	8q21.11	AR	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TMIE	3p21.31	AR	Deafness, autosomal recessive 6
TMPRSS3	21q22.3	AR	Deafness, autosomal recessive 8/10
TNFRSF11B	8q24.12	AR	Paget disease of bone 5, juvenile-onset
TNNT1	19q13.42	AR	Nemaline myopathy 5, Amish type
TPK1	7q35	AR	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
TPO	2p25.3	AR	Thyroid dyshormonogenesis 2A
TPP1	11p15.4	AR	Ceroid lipofuscinosis, neuronal, 2
TPP1	11p15.4	AR	Spinocerebellar ataxia, autosomal recessive 7
TRDN	6q22.31	AR	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TREX1	3p21.31	AD, AR	Aicardi-Goutieres syndrome 1, dominant and recessive
TRIM32	9q33.1	AR	Bardet-Biedl syndrome 11
TRIM32	9q33.1	AR	Muscular dystrophy, limb-girdle, autosomal recessive 8
TRIM37	17q22	AR	Mulibrey nanism
TRIP11	14q32.12	AR	Achondrogenesis, type IA
TRIP11	14q32.12	AR	Osteochondrodysplasia
TRMU	22q13.31	AR	Liver failure, transient infantile
TSEN2	3p25.2	AR	Pontocerebellar hypoplasia type 2B
TSEN34	19q13.42	AR	Pontocerebellar hypoplasia type 2C
TSEN54	17q25.1	AR	Pontocerebellar hypoplasia type 5
TSEN54	17q25.1	AR	Pontocerebellar hypoplasia type 2A
TSEN54	17q25.1	AR	Pontocerebellar hypoplasia type 4
TSFM	12q14.1	AR	Combined oxidative phosphorylation deficiency 3
TSHB	1p13.2	AR	Hypothyroidism, congenital, nongoitrous 4
TSHR	14q31.1	AR	Sudden infant death with dysgenesis of the testes syndrome
TSHR	14q31.1	AR	Hypothyroidism, congenital, nongoitrous, 1
TSPYL1	6q22.1	AR	Sudden infant death with dysgenesis of the testes syndrome
TTC21B	2q24.3	AD, AR	Nephronophthisis 12
TTC21B	2q24.3	AR	Short-rib thoracic dysplasia 4 with or without polydactyly
TTC37	5q15	AR	Trichohepatoenteric syndrome 1
TTC8	14q31.3	AR	Retinitis pigmentosa 51
TTC8	14q31.3	AR	Bardet-Biedl syndrome 8
TTN	2q31.2	AR	Salih myopathy
TTN	2q31.2	AR	Muscular dystrophy, limb-girdle, autosomal recessive 10
TTPA	8q12.3	AR	Ataxia with isolated vitamin E deficiency
TULP1	6p21.31	AR	Leber congenital amaurosis 15
TULP1	6p21.31	AR	Retinitis pigmentosa 14
TYMP	22q13.33	AR	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
TYRP1	9p23	AR	Albinism, oculocutaneous, type III
UBA1	Xp11.3	XLR	Spinal muscular atrophy, X-linked 2, infantile
UBR1	15q15.2	AR	Johanson-Blizzard syndrome
UGT1A1	2q37.1	AR	Gilbert syndrome
UGT1A1	2q37.1	AR	Crigler-Najjar syndrome, type I
UGT1A1	2q37.1	AR	Crigler-Najjar syndrome, type II
UGT1A1	2q37.1	AR	Hyperbilirubinemia, familial transient neonatal
UPB1	22q11.23	AR	Beta-ureidopropionase deficiency
UPF3B	Xq24	XLR	Mental retardation, X-linked, syndromic 14
UǪCRB	8q22.1	AR	Mitochondrial complex III deficiency, nuclear type 3
UǪCRǪ	5q31.1	AR	Mitochondrial complex III deficiency, nuclear type 4
UROS	10q26.2	AR	Porphyria, congenital erythropoietic
USH1C	11p15.1	AR	Deafness, autosomal recessive 18A
USH1C	11p15.1	AR	Usher syndrome, type 1C
USH1G	17q25.1	AR	Usher syndrome, type 1G
USH2A	1q41		Retinitis pigmentosa 39
USH2A	1q41	AR	Usher syndrome, type 2A
VDR	12q13.11	AR	Rickets, vitamin D-resistant, type IIA
VLDLR	9p24.2	AR	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
VPS13A	9q21.2	AR	Choreoacanthocytosis
VPS13B	8q22.2	AR	Cohen syndrome
VPS33B	15q26.1	AR	Arthrogryposis, renal dysfunction, and cholestasis 1
VPS45	1q21.2	AR	Neutropenia, severe congenital, 5, autosomal recessive
VPS53	17p13.3	AR	Pontocerebellar hypoplasia, type 2E
VRK1	14q32.2	AR	Pontocerebellar hypoplasia type 1A
VSX2	14q24.3	AR	Microphthalmia with coloboma 3
VSX2	14q24.3	AR	Microphthalmia, isolated, with coloboma 8
VWF	12p13.31	AR	von Willibrand disease, type 3
VWF	12p13.31	AD, AR	von Willebrand disease, types 2A, 2B, 2M, and 2N
WAS	Xp11.23	XLR	Neutropenia, severe congenital, X-linked
WAS	Xp11.23	XLR	Thrombocytopenia, X-linked
WAS	Xp11.23	XLR	Thrombocytopenia, X-linked, intermittent
WAS	Xp11.23	XLR	Wiskott-Aldrich syndrome
WDR1S	4p14	AR	Cranioectodermal dysplasia 4
WDR1S	4p14	AR	Short-rib thoracic dysplasia 5 with or without polydactyly
WDR1S	4p14	AR	Nephronophthisis 13
WDR1S	4p14	AR	Senior-Loken syndrome 8
WDRC2	19q13.12	AR	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
WFS1	4p16.1	AR	Wolfram syndrome 1
WISP3	6q21	AR	Arthropathy, progressive pseudorheumatoid, of childhood
WISP3	6q21	AR	Spondyloepiphyseal dysplasia tarda with progressive arthropathy
WNT10A	2q35	AR	Odontoonychodermal dysplasia
WNT10A	2q35	AR	Schopf-Schulz-Passarge syndrome
WNT10A	2q35	AD, AR	Tooth agenesis, selective, 4
WRN	8p12	AR	Werner syndrome
XPA	9q22.33	AR	Xeroderma pigmentosum, group A
XPC	3p25.1	AR	Xeroderma pigmentosum, group C
YARS2	12p11.21	AR	Myopathy, lactic acidosis, and sideroblastic anemia 2
ZDHHCS	Xq26.1	XL	Mental retardation, X-linked syndromic, Raymond type
ZFYVE2C	14q24.1	AR	Spastic paraplegia 15, autosomal recessive
ZIC3	Xq26.3	XLR	Congenital heart defects, nonsyndromic, 1, X-linked
ZIC3	Xq26.3	XLR	Heterotaxy, visceral, 1, X-linked
ZIC3	Xq26.3	XLR	VACTERL association, X-linked
ZMPSTE24	1p34.2	AR	Mandibuloacral dysplasia with type B lipodystrophy
ZMPSTE24	1p34.2	AR	Restrictive dermopathy, lethal
ZNF711	Xq21.1	XL	Mental retardation, X-linked 97

Legend:

AD – Autosomal Dominant
AR – Autosomal Recessive
DD – Digenic Dominant
DR – Digenic Recessive
Mi – Mitochondrial
Mu – Mutation
SMo – Somatic Mosaicism
SMu – Somatic Mutation
XL – X-linked
XLD – X-linked Dominant
XLR – X-linked Recessive

FAQ

When can I test for CarrierCheck V2?

CarrierCheck V2 can be performed at any time before or during early pregnancy, though it is ideally done before conception. Testing early allows individuals or couples to understand their reproductive genetic risks in advance and explore options such as genetic counseling, IVF with PGT-M, or other family planning strategies if both partners are found to be carriers of the same condition.

What does it mean to be a “carrier”?

A carrier has one altered copy of a gene associated with a recessive genetic condition. Carriers are usually healthy but can pass the gene to their children. If both parents are carriers of the same condition, there is a 25% chance with each pregnancy that the child may be affected.

What happens if the result is positive?

A positive result means you carry a gene variant for an inherited condition. While this does not necessarily mean your child will be affected, it’s important to explore the next steps. Next steps include:
1. Prenatal Diagnostic Testing: If you’re already pregnant, procedures like chorionic villus sampling (CVS) or amniocentesis can help determine whether your baby has inherited the condition.
2. Planning and Preparation: Understanding your baby’s potential needs early on allows you to plan ahead. Some conditions, like phenylketonuria (PKU), benefit from early treatment that can improve long-term outcomes.
3. Reproductive Options for Future Planning: If you’re not currently pregnant, your results can help guide future family planning. You may consider.
– In vitro fertilization (IVF) with preimplantation genetic testing
– Preimplantation Genetic Testing for Monogenic Disorder (PGT-M)
– Sperm or egg donation
– Adoption

Notification Text

CarrierCheck V2

What is Carrier Screening?

Why is it important?

What is CarrierCheck V2?

Who Should Consider CarrierCheck V2?

CarrierCheck V2 Gene Listing

At DNA LAB, we offer reference functions in molecular diagnostic and screening services for most Obstetricians, Gynaecologist, Paediatrics, Clinical Oncologists, GP Clinics, medical centres and hospitals in Malaysia.

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