Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R55 Hereditary ataxia with onset in childhood' and ‘R84 Cerebellar anomalies’ but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R55 Hereditary ataxia with onset in childhood' and ‘R84 Cerebellar anomalies’.

This panel is a super panel composed of constituent panels: 'Ataxia and cerebellar anomalies - narrow panel', 'Neurological ciliopathies' and 'Congenital disorders of glycosylation', for the clinical indications 'R55 Hereditary ataxia with onset in childhood' and 'R84 Cerebellar anomalies'. Changes made to this panel will automatically be updated in the relevant constituent panel(s).

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This is comprised of:
- Congenital disorders of glycosylation (Version 4.0) (https://panelapp.genomicsengland.co.uk/api/v1/panels/25/?version=4.0)
- Ataxia and cerebellar anomalies - narrow panel (Version 4.0) https://panelapp.genomicsengland.co.uk/api/v1/panels/477/?version=4.0)
- Neurological ciliopathies (Version 3.0) https://panelapp.genomicsengland.co.uk/api/v1/panels/724/?version=3.0)

The constituent panels will continue to be curated based on external reviews and Genomics England curation. New changes to constituent panels will be reflected in an increase to the minor version of the panel and details of these can be viewed on each constituent panel 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

One or more of the constituent panels of this super panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

494 Entities

343 reviewed, 365 green

List Entity Reviews Mode of inheritance Details
494 Entitiess
Green Green List (high evidence)
AAAS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
  • Triple-A syndrome, MONDO:0009279
Tags
Green Green List (high evidence)
ABCB7
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Anemia, sideroblastic, with ataxia, OMIM:301310
Tags
Green Green List (high evidence)
ABHD12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Tags
Green Green List (high evidence)
ACO2
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Infantile cerebellar-retinal degeneration, OMIM:614559
  • Infantile cerebellar-retinal degeneration, MONDO:0013802
Tags
Green Green List (high evidence)
ADGRG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Polymicrogyria, bilateral frontoparietal 606854
Tags
Green Green List (high evidence)
ADPRHL2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170
  • neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Tags
  • new-gene-name
Green Green List (high evidence)
AFG3L2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 28, OMIM:610246
  • Spastic ataxia 5, autosomal recessive, OMIM:614487
Tags
Green Green List (high evidence)
AHI1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 3
  • Joubert syndrome
  • Joubert syndrome-3.
Tags
Green Green List (high evidence)
ALDH5A1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Tags
Green Green List (high evidence)
ALG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ik 608540
  • Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ip 613661
  • ALG11-CDG (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ig 607143
  • Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG14
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
  • Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Id 601110
  • Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)
Tags
  • pathogenic-synonymous
Green Green List (high evidence)
ALG6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ic 603147
  • Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ih 608104
  • Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • ALG9-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Il 608776
  • Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
AMPD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
  • pontocerebellar hypoplasia type 9, 615809
  • Pontocerebellar hypoplasia 9 (#615809)
Tags
Green Green List (high evidence)
ANO10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10,
Tags
Green Green List (high evidence)
AP1S2
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Pettigrew syndrome, OMIM:304340
Tags
Green Green List (high evidence)
APTX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia with Oculomotor Apraxia
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Tags
Green Green List (high evidence)
ARL13B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 8
Tags
Green Green List (high evidence)
ARMC9
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30, 617622
Tags
Green Green List (high evidence)
ARSA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy (#250100)
Tags
Green Green List (high evidence)
ATAD3A
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Harel-Yoon syndrome, OMIM:617183
  • Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
Tags
Green Green List (high evidence)
ATCAY
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia, cerebellar, Cayman type OMIM:601238
  • Cayman type cerebellar ataxia MONDO:0011025
Tags
Green Green List (high evidence)
ATG7
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422
Tags
Green Green List (high evidence)
ATM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia-telangiectasia, OMIM:208900
Tags
Green Green List (high evidence)
ATP1A3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
  • Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Tags
Green Green List (high evidence)
ATP6AP1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • Immunodeficiency 47 300972
Tags
Green Green List (high evidence)
ATP6V0A1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • ATP6V0A1-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
ATP6V0A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA 21920
  • Wrinkly skin syndrome 278250
  • V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Tags
Green Green List (high evidence)
ATP8A2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268
  • cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104
Tags
Green Green List (high evidence)
ATXN2_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 2, OMIM:183090
Tags
  • STR
Green Green List (high evidence)
ATXN7_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 7, OMIM:164500
Tags
  • STR
Green Green List (high evidence)
B3GALNT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
  • congenital muscular dystrophies
Tags
Green Green List (high evidence)
B3GALNT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Tags
Green Green List (high evidence)
B3GALT6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, progeroid type, 2 615349
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Tags
Green Green List (high evidence)
B3GAT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
  • B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
B3GLCT
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Peters-plus syndrome 261540
  • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
B4GALNT1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 26, autosomal recessive, OMIM:609195
  • Hereditary spastic paraplegia 26, MONDO:0012213
Tags
Green Green List (high evidence)
B4GALT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IId, OMIM:607091
Tags
Green Green List (high evidence)
B4GALT7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Ehlers-Danlos syndrome with short stature and limb anomalies 130070
  • B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
B4GAT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Tags
Green Green List (high evidence)
B9D2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
Green Green List (high evidence)
BBS1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green Green List (high evidence)
C2CD3
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • short-rib polydactyly syndromes (SRPS
  • MIM208500)
  • MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
  • ?Orofaciodigital syndrome XIV, 615948
  • Orofaciodigital syndromes (OFDS, MIM 311200)
Tags
Green Green List (high evidence)
C5orf42
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Oral-facial-digital syndrome type VI
  • Joubert syndrome 17
Tags
  • new-gene-name
Green Green List (high evidence)
CA8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Tags
Green Green List (high evidence)
CACNA1A
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 42, OMIM:617106
  • developmental and epileptic encephalopathy, 42, MONDO:0014917
  • Episodic ataxia, type 2, OMIM:108500
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Tags
Green Green List (high evidence)
CACNA1G
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 42 616795
Tags
Green Green List (high evidence)
CAD
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 50, OMIM:616457
Tags
Green Green List (high evidence)
CAMTA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Cerebellarataxia, nonprogressive, with mental retardation, 614756
Tags
Green Green List (high evidence)
CASK
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • FG syndrome 4, 300422
  • Mental retardation, with or without nystagmus
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia
  • Pontocerebellar Hypoplasia
  • FG syndrome 4
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
  • Mental retardation, with or without nystagmus, 300422
Tags
Green Green List (high evidence)
CBY1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • intellectual disability
  • cerebellar ataxia
  • molar tooth sign
  • polydactyly
  • Joubert syndrome
Tags
  • gene-checked
Green Green List (high evidence)
CC2D2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 9
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome 6
  • Meckel syndrome
Tags
Green Green List (high evidence)
CCDC115
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type IIo 616828
Tags
Green Green List (high evidence)
CENPF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Stromme syndrome, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green Green List (high evidence)
CEP104
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
Tags
Green Green List (high evidence)
CEP290
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 610189
  • Meckel syndrome 4
  • Senior-Loken syndrome
  • 611755
  • Joubert syndrome 5
  • Joubert syndrome with oculorenal defect
  • 610188
  • Senior-Loken syndrome 6
  • 611134
  • Meckel syndrome
Tags
Green Green List (high evidence)
CEP41
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 15
Tags
Green Green List (high evidence)
CHMP1A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 8, 614961
Tags
Green Green List (high evidence)
CHST14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1 601776
  • CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
CHST3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations 143095
  • CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
CHST6
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Macular corneal dystrophy 217800
  • CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
CHSY1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Temtamy preaxial brachydactyly syndrome 605282
  • CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
CLCN2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with ataxia, OMIM:615651
Tags
Green Green List (high evidence)
CLN5
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
  • neuronal ceroid lipofuscinosis 5 MONDO:0009745
Tags
Green Green List (high evidence)
CLN6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Tags
Green Green List (high evidence)
CLP1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 10 OMIM:615803
  • Pontocerebellar hypoplasia type 10 MONDO:0014349
Tags
  • founder-effect
Green Green List (high evidence)
COA7
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Tags
Green Green List (high evidence)
COG1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIg 611209
  • Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
Green Green List (high evidence)
COG4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIj 613489
  • Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
Green Green List (high evidence)
COG5
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIi 613612
  • Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
  • non-coding-known-pathogenic
Green Green List (high evidence)
COG6
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIl 614576
  • Shaheen syndrome 615328
  • Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
Green Green List (high evidence)
COG7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIe 608779
  • Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
Green Green List (high evidence)
COG8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIh 611182
  • Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
Green Green List (high evidence)
COQ4
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Tags
  • treatable
Green Green List (high evidence)
COQ8A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary 4, 612016
  • Spinocerebellar Ataxia Type
Tags
Green Green List (high evidence)
COX20
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
CP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, 604290
  • Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Tags
Green Green List (high evidence)
CRB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Green Green List (high evidence)
CSGALNACT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation
  • Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870
  • skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
Tags
Green Green List (high evidence)
CSPP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Meckel syndrome
  • Joubert syndrome 21
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
CSTB
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800
  • Unverricht-Lundborg syndrome MONDO:0009698
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
CSTB_CCCCGCCCCGCG
STR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800
  • Unverricht-Lundborg syndrome MONDO:0009698
Tags
  • STR
Green Green List (high evidence)
CTBP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
Tags
  • missense
Green Green List (high evidence)
CWF19L1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 17, 616127
Tags
Green Green List (high evidence)
CYP27A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
Tags
Green Green List (high evidence)
DARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Green Green List (high evidence)
DDHD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.
Tags
Green Green List (high evidence)
DDX59
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
Green Green List (high evidence)
DHCR7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
Green Green List (high evidence)
DHDDS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Tags
Green Green List (high evidence)
DKC1
2 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, X-linked OMIM:305000
  • dyskeratosis congenita, X-linked MONDO:0010584
Tags
Green Green List (high evidence)
DNAJC19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type V
Tags
Green Green List (high evidence)
DNAJC5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type
Tags
Green Green List (high evidence)
DNMT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Tags
Green Green List (high evidence)
DOCK3
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292
  • neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661
Tags
Green Green List (high evidence)
DOLK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Im 610768
  • Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
DPAGT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ij 608093
  • Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
  • UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
DPM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ie, OMIM:608799
  • GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
DPM2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Iu, OMIM:615042
Tags
Green Green List (high evidence)
DPM3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Tags
Green Green List (high evidence)
DPYSL5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Tags
Green Green List (high evidence)
EBF3
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypotonia, ataxia, and delayed development syndrome OMIM:617330
  • hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Tags
Green Green List (high evidence)
EDEM3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type 2V, OMIM:619493
Tags
Green Green List (high evidence)
EIF2B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
  • Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Tags
Green Green List (high evidence)
EIF2B2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
ELOVL4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 34
Tags
Green Green List (high evidence)
EOGT
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Adams-Oliver syndrome 4 OMIM:615297
  • Adams-Oliver syndrome 4 MONDO:0014124
Tags
Green Green List (high evidence)
EPM2A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora)
Tags
Green Green List (high evidence)
EVC
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ellis-van Creveld syndrome, OMIM:225500
Tags
Green Green List (high evidence)
EVC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrofacial dysostosis, 193530
Tags
Green Green List (high evidence)
EXOSC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, OMIM:614678
Tags
Green Green List (high evidence)
EXT1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Exostoses, multiple, type 1 133700
  • Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
EXT2
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • ?Seizures, scoliosis, and macrocephaly syndrome 616682
  • Exostoses, multiple, type 2 133701
  • Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
FA2H
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 35, autosomal recessive OMIM:612319
  • hereditary spastic paraplegia 35 MONDO:0012866
Tags
Green Green List (high evidence)
FBXL4
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471
  • mitochondrial DNA depletion syndrome 13 MONDO:0014198
Tags
Green Green List (high evidence)
FEM1C
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Ataxia, HP:0001251
Tags
  • gene-checked
Green Green List (high evidence)
FGF14
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 27
Tags
Green Green List (high evidence)
FKRP
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Tags
Green Green List (high evidence)
FKRP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
FKTN
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
  • Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
  • Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
FKTN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fukuyama Congenital Muscular Dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Fukuyama congenital muscular dystrophy
Tags
Green Green List (high evidence)
FLVCR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Posterior Column Ataxia with Retinitis Pigmentosa
  • Ataxia, posterior column, with retinitis pigmentosa,
Tags
Green Green List (high evidence)
FOLR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
Tags
Green Green List (high evidence)
FRMD5
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094
Tags
Green Green List (high evidence)
FUT8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation, 618005
Tags
Green Green List (high evidence)
FXN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Friedreich ataxia OMIM:229300
  • Friedreich ataxia with retained reflexes OMIM:229300
  • Friedreich ataxia 1 MONDO:0100340
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
FXN_GAA
STR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Friedreich ataxia OMIM:229300
  • Friedreich ataxia with retained reflexes OMIM:229300
  • Friedreich ataxia 1 MONDO:0100340
Tags
  • STR
Green Green List (high evidence)
G6PC3
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Dursun syndrome OMIM:612541
  • Neutropenia, severe congenital 4, autosomal recessive OMIM:612541
  • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
Tags
Green Green List (high evidence)
GALNT2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIt 618885
Tags
Green Green List (high evidence)
GALNT3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial 211900
  • Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
GBA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, 614409
Tags
Green Green List (high evidence)
GEMIN5
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333
Tags
Green Green List (high evidence)
GFAP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Autosomal Dominant Ataxia
  • Alexander disease
Tags
Green Green List (high evidence)
GFPT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
Tags
Green Green List (high evidence)
GJC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 2
  • Autosomal Recessive Ataxia
Tags
Green Green List (high evidence)
GLI3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Tags
Green Green List (high evidence)
GMPPA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Tags
Green Green List (high evidence)
GMPPB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140
Tags
Green Green List (high evidence)
GMPPB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
  • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Tags
Green Green List (high evidence)
GNE
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Nonaka myopathy 605820
  • ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
GORAB
4 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Research
Phenotypes
  • Geroderma osteodysplasticum OMIM:231070
  • geroderma osteodysplastica MONDO:0009271
Tags
Green Green List (high evidence)
GOSR2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018
Tags
Green Green List (high evidence)
GPAA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Tags
Green Green List (high evidence)
GRID2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 18, 616204
Tags
Green Green List (high evidence)
GRM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 44, OMIM:617691
  • Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831
Tags
  • watchlist_moi
Green Green List (high evidence)
GRN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 11 OMIM:614706
  • neuronal ceroid lipofuscinosis 11 MONDO:0013866
Tags
Green Green List (high evidence)
HEXA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GM2-gangliosidosis, several forms, 272800
  • Tay-Sachs disease, 272800
Tags
Green Green List (high evidence)
HEXB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Tags
Green Green List (high evidence)
HYLS1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Hydrolethalus syndrome, 236680
Tags
Green Green List (high evidence)
ICK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • new-gene-name
Green Green List (high evidence)
IFT74
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 40, OMIM:619582
  • Joubert syndrome 40, MONDO:0030462
Tags
Green Green List (high evidence)
INPP5E
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 1
Tags
Green Green List (high evidence)
INTS11
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Tags
Green Green List (high evidence)
IRF2BPL
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
  • neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • 176270
  • 105831
  • Angelman syndrome
  • Prader-Willi syndrome
  • Mental retardation
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
  • hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636
  • chromosome 15q11-q13 duplication syndrome
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • 176270
  • Angelman syndrome
  • Prader-Willi syndrome
  • 105830
  • Mental retardation
Tags
Green Green List (high evidence)
3q24 Region (includes ZIC1) Loss
ISCA-46553-Loss
Region
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Tags
Green Green List (high evidence)
ISPD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
  • new-gene-name
Green Green List (high evidence)
ISPD
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052
Tags
  • new-gene-name
Green Green List (high evidence)
ITPR1
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 29
  • Gillespie syndrome 206700
  • Spinocerebellar ataxia 15
  • Spinocerebellar ataxia 29, congenital nonprogressive
Tags
Green Green List (high evidence)
KCNA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Episodic ataxia/myokymia syndrome,
Tags
Green Green List (high evidence)
KCNA2
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 32 OMIM:616366
  • developmental and epileptic encephalopathy, 32 MONDO:0014607
Tags
Green Green List (high evidence)
KCNC3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 13
Tags
Green Green List (high evidence)
KCND3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellarataxia19,607346
Tags
Green Green List (high evidence)
KCNJ10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
Tags
Green Green List (high evidence)
KCNN2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • seizures
  • movement disorder
Tags
Green Green List (high evidence)
KIAA0586
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 23
  • Joubert syndrome
  • Short-rib thoracic dysplasia 14 with polydactyly
  • Short-rib dysplasia 14 with polydactyly
Tags
Green Green List (high evidence)
KIAA0753
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome XV 617127
Tags
Green Green List (high evidence)
KIF1A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 30, autosomal dominant, OMIM:610357
  • Spastic paraplegia 30, autosomal recessive, OMIM:610357
  • NESCAV syndrome, OMIM:614255
Tags
  • watchlist_moi
Green Green List (high evidence)
KIF1C
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic ataxia 2, autosomal recessive, OMIM:611302
Tags
Green Green List (high evidence)
KIF7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 12 200990
  • Acrocallosal syndrome 200990
Tags
Green Green List (high evidence)
LAMA1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Poretti-Boltshauser syndrome OMIM:615960
  • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Tags
Green Green List (high evidence)
LAMA1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Poretti-Boltshauser syndrome OMIM:615960
  • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Tags
Green Green List (high evidence)
LARGE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
LARGE1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
  • N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
LARS2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Perrault syndrome 4, OMIM:615300
Tags
Green Green List (high evidence)
MAG
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
  • London North GLH
  • Yorkshire and North East GLH
Phenotypes
  • Spastic paraplegia 75, autosomal recessive, OMIM:616680
Tags
Green Green List (high evidence)
MAGT1
4 reviews
3 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
  • IAP-CDG (Disorders of protein N-glycosylation)
Tags
  • Skewed X-inactivation
Green Green List (high evidence)
MAN1B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Mental retardation, autosomal recessive 15 614202
  • MAN1B1-CDG (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
MAPK8IP3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
Tags
Green Green List (high evidence)
MARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic ataxia 3, autosomal recessive
Tags
Green Green List (high evidence)
MGAT2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIa 212066
  • N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
MINPP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia
Tags
Green Green List (high evidence)
MKS1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • occipital encephalocele
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • Joubert syndrome 28
  • 249000
  • polydactyly
  • polycystic kidneys
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • renal fibrosis
Tags
Green Green List (high evidence)
MMACHC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia and hypogonadism
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
Green Green List (high evidence)
MOGS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIb 606056
  • MOGS-CDG (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
MORC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Axonal type CMT disease type 2Z, 616688
Tags
Green Green List (high evidence)
MPDU1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type If 609180
  • Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
MPI
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ib, OMIM:602579
  • MPI-CDG, MONDO:0011257
  • Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
MRE11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia-telangiectasia-like disorder
  • Ataxia-Telangiectasia-Like Disorder
Tags
Green Green List (high evidence)
MSTO1
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, mitochondrial, and ataxia OMIM:617675
  • mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Tags
  • Q1_24_MOI
Green Green List (high evidence)
MT-ATP6
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • Neuropathy, Ataxia, and Retinitis Pigmentosa
Tags
  • gene-checked
Green Green List (high evidence)
MTCL1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • slowly progressive cerebellar ataxia
  • mild intellectual disability
  • seizures
  • episodic pain
  • spinocerebellar ataxia
Tags
  • gene-checked
Green Green List (high evidence)
MTFMT
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 15 OMIM:614947
  • combined oxidative phosphorylation defect type 15 MONDO:0013987
  • Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248
  • mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
Tags
Green Green List (high evidence)
MTTP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Abetalipoproteinemia, 200100
Tags
Green Green List (high evidence)
MVK
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mevalonic aciduria, OMIM:610377
Tags
Green Green List (high evidence)
NAXE
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186
Tags
Green Green List (high evidence)
NFASC
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
  • neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698
Tags
Green Green List (high evidence)
NGLY1
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of deglycosylation 615273
Tags
Green Green List (high evidence)
NHLRC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora)
Tags
Green Green List (high evidence)
NKX2-1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM
  • hereditary progressive chorea without dementia MONDO:0021011:610978
  • brain-lung-thyroid syndrome MONDO:0012593
  • Chorea, hereditary benign OMIM:118700
Tags
Green Green List (high evidence)
NKX6-2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560
Tags
Green Green List (high evidence)
NPC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease types C1 and D (#257220)
Tags
Green Green List (high evidence)
NPC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease type C2, 607625
Tags
Green Green List (high evidence)
NPHP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 4
  • Senior-Loken syndrome
  • 256100 Senior-Loken syndrome-1, 266900
  • 609583 Nephronophthisis 1, juvenile
  • Nephronophthisis
Tags
Green Green List (high evidence)
NPHP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal-hepatic-pancreatic dysplasia
  • Senior-Loken syndrome
  • Nephronophthisis 3, 604387
  • Meckel syndrome 7, 267010
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Nephronophthisis
Tags
Green Green List (high evidence)
NPTX1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 50, OMIM:620158
Tags
Green Green List (high evidence)
OFD1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 10
  • X-linked Joubert syndrome
  • Orofaciodigital syndrome I
Tags
Green Green List (high evidence)
OGDHL
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
Tags
Green Green List (high evidence)
OPA1
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Optic atrophy 1, OMIM:165500
  • Optic atrophy plus syndrome, OMIM:125250
  • Behr syndrome, OMIM:210000
Tags
Green Green List (high evidence)
OPA3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Costeff syndrome
  • 3-methylglutaconic aciduria, type III, 258501
Tags
Green Green List (high evidence)
OPHN1
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Tags
Green Green List (high evidence)
PAX6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aniridia, Cerebellar Ataxia, And Mental Retardation
Tags
Green Green List (high evidence)
PDYN
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 23
Tags
Green Green List (high evidence)
PEX16
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Zellweger syndrome (614876)
  • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
Tags
Green Green List (high evidence)
PEX6
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 4B, OMIM:614863
Tags
Green Green List (high evidence)
PGAP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 3 614207
  • PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
Green Green List (high evidence)
PGAP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 4 615716
Tags
Green Green List (high evidence)
PGM1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of deglycosylation 615273
Tags
Green Green List (high evidence)
PGM3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Immunodeficiency 23 615816
Tags
Green Green List (high evidence)
PI4KA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Tags
Green Green List (high evidence)
PIBF1
6 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 33, OMIM:617767
  • ataxia
  • vermis hypoplasia
  • developmental delay
  • thick superior cerebellar peduncles
  • superior cerebellar dysplasia
Tags
Green Green List (high evidence)
PIGA
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868
  • PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
  • Skewed X-inactivation
Green Green List (high evidence)
PIGL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • CHIME syndrome 280000
  • PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
Green Green List (high evidence)
PIGN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080
Tags
Green Green List (high evidence)
PIGO
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 2 614749
  • (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
Green Green List (high evidence)
PIGS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 18 618143
Tags
Green Green List (high evidence)
PIGT
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Tags
Green Green List (high evidence)
PIGV
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 1 239300
  • (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
Green Green List (high evidence)
PIGW
4 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025
  • hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457
Tags
Green Green List (high evidence)
PITRM1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Ataxia
  • Intellectual disability
Tags
  • gene-checked
Green Green List (high evidence)
PLA2G6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Infantile neuroaxonal dystrophy 1 (#256600)
  • Parkinson disease 14 (#612953)
  • Neurodegeneration with brain iron accumulation 2B (#610217)
Tags
Green Green List (high evidence)
PMM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green Green List (high evidence)
PMM2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
  • Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
PMPCA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2 213200 AR
  • Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Tags
Green Green List (high evidence)
PMPCB
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954
  • multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Tags
Green Green List (high evidence)
PNKP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia with oculomotor apraxia 4 (#616267)
Tags
Green Green List (high evidence)
PNPLA6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
  • Oliver-McFarlane syndrome (#603197)
  • Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
Tags
Green Green List (high evidence)
POLG
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Tags
Green Green List (high evidence)
POLR3A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
  • Autosomal Recessive Ataxia
Tags
Green Green List (high evidence)
POLR3B
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381
  • POLR3B-related neurodevelopmental disorder
  • Ataxia, spasticity, and demyelinating neuropathy
Tags
Green Green List (high evidence)
POMGNT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157
  • Retinitis pigmentosa 76 617123
  • Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
POMGNT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
POMGNT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
Tags
Green Green List (high evidence)
POMGNT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
Tags
Green Green List (high evidence)
POMK
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
Tags
Green Green List (high evidence)
POMT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
  • Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
POMT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Tags
Green Green List (high evidence)
POMT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
POMT2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
  • Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
POU4F1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, OMIM:619352
Tags
Green Green List (high evidence)
PRDM13
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 17, OMIM:619909
  • Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761
Tags
Green Green List (high evidence)
PRDX3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 32, OMIM:619862
Tags
Green Green List (high evidence)
PRKCG
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 14
Tags
Green Green List (high evidence)
PRNP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Creutzfeldt-Jakob disease
  • Autosomal Dominant Ataxia
  • Gerstmann-Straussler disease
  • Huntington disease-like 1
  • Insomnia, fatal familial
Tags
Green Green List (high evidence)
PRRT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
  • Episodic kinesigenic dyskinesia 1, 128200
  • Seizures, benign familial infantile, 2, 605751
Tags
Green Green List (high evidence)
PTF1A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pancreatic and cerebellar agenesis, 609069
Tags
Green Green List (high evidence)
RARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • epilepsy
  • Pontocerebellar hypoplasia, type 6, 611523
  • Pontocerebellar Hypoplasia type 6
  • Pontocerebellar hypoplasia
  • Pontocerebellar Hypoplasia
Tags
Green Green List (high evidence)
RELN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lissencephaly 2, 257320
Tags
Green Green List (high evidence)
RFT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type In 612015
  • Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
RNF170
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Ataxia, sensory, 1, autosomal dominant
Tags
Green Green List (high evidence)
RNF216
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Tags
Green Green List (high evidence)
RNF220
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Ataxia, HP:0001251
Tags
Green Green List (high evidence)
ROBO3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1
Tags
Green Green List (high evidence)
RORA
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060
  • intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745
Tags
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 7
  • Meckel syndrome 5
  • Joubert syndrome
  • Meckel syndrome
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
SACS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type
Tags
Green Green List (high evidence)
SCLT1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36)
  • No OMIM phenotype
Tags
  • gene-checked
Green Green List (high evidence)
SCN1A
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Dravet syndrome OMIM:607208
  • developmental and epileptic encephalopathy, 6 MONDO:0100079
Tags
Green Green List (high evidence)
SCN2A
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Episodic ataxia, type 9, MIM# 618924, MONDO:0030064
  • Developmental and epileptic encephalopathy 11, MIM# 613721, MONDO:0013388
Tags
Green Green List (high evidence)
SCN8A
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cognitive impairment with or without cerebellar ataxia, OMIM:614306
  • Developmental and epileptic encephalopathy 13, OMIM:614558
Tags
Green Green List (high evidence)
SCYL1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719
  • acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744
Tags
Green Green List (high evidence)
SEC23B
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Dyserythropoietic anemia, congenital, type II, OMIM:224100
  • COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Tags
  • Q4_23_MOI
Green Green List (high evidence)
SEPSECS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia type 2D (613811)
  • Pontocerebellar hypoplasia type 2D, 613811
  • Pontocerebellar Hypoplasia type 2D
Tags
Green Green List (high evidence)
SETX
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
Tags
Green Green List (high evidence)
SIL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Green Green List (high evidence)
SLC17A5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Salla disease, OMIM:604369
  • Sialic acid storage disorder, infantile, OMIM:269920
Tags
Green Green List (high evidence)
SLC1A3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Episodic ataxia, type 6,
Tags
Green Green List (high evidence)
SLC25A46
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebellar ataxia, MONDO:0000437
  • Pontocerebellar hypoplasia, type 1E, MIM# 619303, MONDO:0030260
  • Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Tags
Green Green List (high evidence)
SLC2A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia 9, 601042
  • GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
  • GLUT1 deficiency syndrome 2, childhood onset, 612126
  • Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
Tags
Green Green List (high evidence)
SLC35A1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIf, 603585
  • CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
SLC35A2
4 reviews
3 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type IIm OMIM:300896
  • Developmental and epileptic encephalopathy-22 OMIM:300896
  • SLC35A2-CDG MONDO:0010478
Tags
  • mosaicism
Green Green List (high evidence)
SLC35C1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIc 266265
  • GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
SLC35D1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Schneckenbecken dysplasia OMIM:269250
  • schneckenbecken dysplasia MONDO:0010013
Tags
Green Green List (high evidence)
SLC37A4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIw, OMIM:619525
Tags
Green Green List (high evidence)
SLC39A8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type IIn 616721
Tags
Green Green List (high evidence)
SLC44A1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868
  • Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028
Tags
Green Green List (high evidence)
SLC52A2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867
  • Cerebellar ataxia, MONDO:0000437
Tags
  • treatable
Green Green List (high evidence)
SLC9A1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Lichtenstein-Knorr syndrome OMIM:616291
  • Lichtenstein-Knorr syndrome MONDO:0014572
Tags
Green Green List (high evidence)
SLC9A6
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, 300243
Tags
Green Green List (high evidence)
SNAP25
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, OMIM:616330
  • cerebellar ataxia, MONDO:0000437
  • seizures, HP:0001250
Tags
Green Green List (high evidence)
SNX14
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia (#616354)
  • Spinocerebellar ataxia, autosomal recessive 20, 616354
Tags
Green Green List (high evidence)
SPG7
4 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 7, autosomal recessive, OMIM:607259
  • hereditary spastic paraplegia 7, MONDO:0011803
Tags
Green Green List (high evidence)
SPR
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Tags
Green Green List (high evidence)
SPTAN1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 5, OMIM:613477
  • developmental and epileptic encephalopathy, 5, MONDO:0013277
Tags
Green Green List (high evidence)
SPTBN2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 5, OMIM:600224
  • Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Tags
Green Green List (high evidence)
SQSTM1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Tags
Green Green List (high evidence)
SRD5A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital Disorder of Glycosylation, Type Iq OMIM:612379
  • Kahrizi Syndrome OMIM:612713
Tags
Green Green List (high evidence)
SRD5A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iq, 612379
  • Kahrizi syndrome, 612713
Tags
Green Green List (high evidence)
SSR4
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type Iy 300934
Tags
Green Green List (high evidence)
ST3GAL3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Developmental and epileptic encephalopathy 15, OMIM:615006
  • developmental and epileptic encephalopathy, 15, MONDO:0014003
  • Intellectual developmental disorder, autosomal recessive 12, OMIM:611090
  • intellectual disability, autosomal recessive 12, MONDO:0012612
Tags
Green Green List (high evidence)
ST3GAL5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Salt and pepper developmental regression syndrome 609056
  • Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Tags
Green Green List (high evidence)
STT3A
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714
  • Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
Tags
Green Green List (high evidence)
STUB1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768
  • autosomal recessive spinocerebellar ataxia 16, MONDO:0014339
  • Spinocerebellar ataxia 48, OMIM:618093
  • spinocerebellar ataxia 48, MONDO:0032526
Tags
Green Green List (high evidence)
SUFU
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 32, OMIM:617757
Tags
Green Green List (high evidence)
SUFU
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 32, OMIM:617757
Tags
Green Green List (high evidence)
SYNE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743
  • Autosomal recessive ataxia, Beauce type, MONDO:0012549
Tags
Green Green List (high evidence)
TBC1D23
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 11, OMIM:617695
Tags
Green Green List (high evidence)
TCTN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
Tags
Green Green List (high evidence)
TCTN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 24
  • Joubert syndrome, Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
TCTN3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Orofaciodigital syndrome IV
  • Joubert syndrome 18
  • Meckel-Gruber
  • Mohr-Majewski syndrome
Tags
Green Green List (high evidence)
TDP2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 23, OMIM:616949
Tags
Green Green List (high evidence)
TECPR2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031
Tags
Green Green List (high evidence)
TINF2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 3 613990
Tags
Green Green List (high evidence)
TMEM107
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome 13 617562
  • ?Joubert syndrome 29 617562
  • Orofaciodigital syndrome XVI 617563
Tags
Green Green List (high evidence)
TMEM138
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 16
Tags
Green Green List (high evidence)
TMEM165
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIk 614727
Tags
Green Green List (high evidence)
TMEM199
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type IIp OMIM:616829
  • TMEM199-CDG MONDO:0014790
Tags
Green Green List (high evidence)
TMEM216
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome: Meckel-Gruber syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Joubert syndrome 2
Tags
Green Green List (high evidence)
TMEM218
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 39, OMIM:619562
Tags
  • gene-checked
Green Green List (high evidence)
TMEM231
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 20
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 20, 614970
  • Meckel syndrome 11, 615397
Tags
Green Green List (high evidence)
TMEM237
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 14
Tags
Green Green List (high evidence)
TMEM240
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 21, 607454
Tags
Green Green List (high evidence)
TMEM5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
  • new-gene-name
Green Green List (high evidence)
TMEM5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041
Tags
  • new-gene-name
Green Green List (high evidence)
TMEM67
6 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • nephronophthisis
  • COACH syndrome
  • Joubert syndrome 6
  • ?Bardet-Biedl syndrome?
  • Senior-Boichis syndrome
  • 613550
  • 607361
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • 610688
  • Nephronophthisis 11
  • 216360
Tags
Green Green List (high evidence)
TOE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 7 614969
Tags
Green Green List (high evidence)
TOGARAM1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 37, OMIM:619185
  • Joubert syndrome 37, MONDO:0030933
Tags
Green Green List (high evidence)
TPP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 7 (#607998)
  • Neuronal ceroid lipfuscinosis 7 (204500)
Tags
Green Green List (high evidence)
TSEN2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia type 2B,612389
  • Pontocerebellar Hypoplasia type 2B
  • Pontocerebellar hypoplasia 2B (612389)
Tags
Green Green List (high evidence)
TSEN34
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 2C,612390
  • Pontocerebellar Hypoplasia type 2C
  • Pontocerebellar hypoplasia 2C (612390)
  • Pontocerebellar Hypoplasia
Tags
Green Green List (high evidence)
TSEN54
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Pontocerebellar hypoplasia type 5, OMIM:610204
  • Pontocerebellar hypoplasia type 2A, OMIM:277470
  • Pontocerebellar hypoplasia type 4, OMIM:225753
Tags
Green Green List (high evidence)
TTBK2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 11
Tags
Green Green List (high evidence)
TTC19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
Tags
Green Green List (high evidence)
TTPA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia with isolated vitamin E deficiency
  • Ataxia with Vitamin E Deficiency
Tags
Green Green List (high evidence)
TUBA1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Lissencephaly 3 6,1603
Tags
Green Green List (high evidence)
TUBB2B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Tags
Green Green List (high evidence)
TUBB3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 1 614039
Tags
Green Green List (high evidence)
TUBB4A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, 612438
  • Dystonia 4, torsion, autosomal dominant, 128101
Tags
Green Green List (high evidence)
TUSC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 7, OMIM:611093
Tags
Green Green List (high evidence)
TWNK
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar Ataxia, Recessive
  • Ataxia Neuropathy Spectrum Disorders, Dominant
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
  • Perrault syndrome 5, 616138
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Tags
Green Green List (high evidence)
TXNDC15
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • MGS
  • Meckel-Gruber syndrome
Tags
  • gene-checked
Green Green List (high evidence)
UBTF
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672
Tags
Green Green List (high evidence)
UCHL1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 79B, autosomal recessive, OMIM:615491
  • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209
  • Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Tags
  • Q3_23_MOI
Green Green List (high evidence)
VLDLR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
  • Cerebellar Hypoplasia
Tags
Green Green List (high evidence)
VPS13B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cohen syndrome, 216550
  • COHEN SYNDROME
Tags
Green Green List (high evidence)
VPS13D
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, 607317
Tags
Green Green List (high evidence)
VPS41
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Generalised Neurodevelopmental disorder
  • Ataxia
  • Dystonia
Tags
Green Green List (high evidence)
VRK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 1A, OMIM:607596
Tags
Green Green List (high evidence)
WDR73
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature
  • Galloway-Mowat syndrome 1, 251300
Tags
Green Green List (high evidence)
WDR81
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Tags
Green Green List (high evidence)
WFS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Wolfram syndrome 1, OMIM:222300
Tags
Green Green List (high evidence)
WWOX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 12, 614322
Tags
Green Green List (high evidence)
XRCC1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633
Tags
  • founder-effect
Green Green List (high evidence)
XYLT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Desbuquois dysplasia 2 615777
Tags
Green Green List (high evidence)
XYLT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Spondyloocular syndrome 605822
Tags
Green Green List (high evidence)
ZSWIM6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Acromelic frontonasal dysostosis 603671
Tags
Amber Amber List (moderate evidence)
ABCA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808
  • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930
Tags
Amber Amber List (moderate evidence)
ACBD6
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
AGTPBP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
ARL3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Joubert syndrome 35, OMIM:61816
Tags
  • watchlist
Amber Amber List (moderate evidence)
ASL
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Argininosuccinic aciduria, OMIM:207900
  • argininosuccinic aciduria, MONDO:0008815
  • Ataxia, HP:0001251
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
ATN1_CAG
STR
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
  • STR
  • watchlist
Amber Amber List (moderate evidence)
ATXN10_ATTCT
STR
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 10, OMIM:603516
Tags
  • STR
  • watchlist
Amber Amber List (moderate evidence)
ATXN1_CAG
STR
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 1, OMIM:164400
Tags
  • STR
  • watchlist
Amber Amber List (moderate evidence)
ATXN3_CAG
STR
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Machado-Joseph disease, OMIM:109150
Tags
  • STR
  • watchlist
Amber Amber List (moderate evidence)
CACNA1A_CAG
STR
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 6, OMIM:183086
Tags
  • STR
  • watchlist
Amber Amber List (moderate evidence)
CAPRIN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebellar ataxia, MONDO:0000437
  • Early-onset ataxia
Tags
  • watchlist
Amber Amber List (moderate evidence)
CHP1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Spastic ataxia 9, autosomal recessive, OMIM:618438
Tags
  • watchlist
Amber Amber List (moderate evidence)
CLPP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Perrault syndrome 3 OMIM:614129
  • Perrault syndrome 3 MONDO:0013588
Tags
Amber Amber List (moderate evidence)
COASY
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodegeneration with brain iron accumulation 6, OMIM:615643
  • neurodegeneration with brain iron accumulation 6, MONDO:0014290
  • Pontocerebellar hypoplasia, type 12, OMIM:618266
  • pontocerebellar hypoplasia, type 12, MONDO:0032643
Tags
Amber Amber List (moderate evidence)
COG3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIbb, OMIM:620546
Tags
Amber Amber List (moderate evidence)
COG5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type IIi
Tags
  • watchlist_moi
Amber Amber List (moderate evidence)
DAG1
0 reviews
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • congenital muscular dystrophies
Tags
Amber Amber List (moderate evidence)
DAGLA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ataxia, HP:0001251
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
DCC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542
Tags
Amber Amber List (moderate evidence)
DLG4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 62, OMIM:618793
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
DNAJC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
EEF2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spinocerebellar ataxia 26 OMIM:609306
Tags
Amber Amber List (moderate evidence)
EN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • ENDOVE syndrome, limb-only type, MIM# 619217
  • ENDOVE syndrome, limb-brain type, MIM# 619218
Tags
  • watchlist
Amber Amber List (moderate evidence)
EXOSC5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Short stature
  • Motor developmental delays
  • Cerebellar hypoplasia
  • Ataxia
Tags
Amber Amber List (moderate evidence)
FAM149B1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome
  • oral-facial-digital syndrome
  • OFD VI
Tags
  • gene-checked
Amber Amber List (moderate evidence)
FUK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324
  • congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Tags
  • new-gene-name
  • watchlist
Amber Amber List (moderate evidence)
GLS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
Tags
  • STR
  • watchlist
Amber Amber List (moderate evidence)
HARS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Multisystem ataxic syndrome
  • Intellectual disability
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
HEATR5B
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • pontocerebellar hypoplasia, MONDO:0020135
  • intellectual disability, MONDO:0001071
  • seizures
Tags
  • watchlist
Amber Amber List (moderate evidence)
HMBS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukoencephalopathy, HP:0002352
  • cerebellar ataxia, MONDO:0000437
Tags
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
LETM1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Tags
  • Q3_23_MOI
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
LIG3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • gut dysmotility
  • spasticity
  • ataxia
  • repetitive behaviours
  • neurogenic bladder
  • macular degeneration
  • leukoencephalopathy
  • cerebellar atrophy
  • mitochondrial DNA depletion
Tags
  • watchlist
Amber Amber List (moderate evidence)
MAN2B2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital disorder of glycosylation, MONDO:0015286
Tags
Amber Amber List (moderate evidence)
NOP56_GGCCTG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 36, OMIM:614153
Tags
  • STR
  • watchlist
Amber Amber List (moderate evidence)
PHGDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neu-Laxova syndrome 1, 256520
Tags
Amber Amber List (moderate evidence)
PIGM
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Glycosylphosphatidylinositol deficiency, OMIM:610293
Tags
  • non-coding-known-pathogenic
  • promoter
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
POC1B
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
Phenotypes
  • Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
  • Joubert Syndrome
  • Senior-Loken Syndrome
Tags
Amber Amber List (moderate evidence)
POLR3K
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 21, OMIM:619310
Tags
  • founder-effect
  • watchlist
Amber Amber List (moderate evidence)
PPP2R2B_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 12, OMIM:604326
Tags
  • STR
  • watchlist
Amber Amber List (moderate evidence)
RFXANK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • MHC class II deficiency, complementation group B, OMIM:209920
  • Progressive Ataxia and Neurologic Regression
Tags
Amber Amber List (moderate evidence)
SMPD4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes
Tags
Amber Amber List (moderate evidence)
SSR3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation
Tags
Amber Amber List (moderate evidence)
SVBP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816
Tags
Amber Amber List (moderate evidence)
TBP_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17, OMIM:607136
Tags
  • STR
  • watchlist
Amber Amber List (moderate evidence)
TERT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Tags
  • watchlist
Amber Amber List (moderate evidence)
TGM6
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 35, OMIM:613908
Tags
Amber Amber List (moderate evidence)
THG1L
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800, MONDO:0032923
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
  • watchlist
Amber Amber List (moderate evidence)
TMEM106B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 16, OMIM:617964
  • Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Tags
  • missense
Amber Amber List (moderate evidence)
TRAPPC11
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356
  • autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Tags
Amber Amber List (moderate evidence)
TSEN15
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia, type 2F, OMIM:617026
Tags
  • watchlist
Amber Amber List (moderate evidence)
TUBA8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Polymicrogyria with optic nerve hypoplasia, 613180
Tags
Amber Amber List (moderate evidence)
VAMP1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Spastic ataxia 1, autosomal dominant, 108600
Tags
Amber Amber List (moderate evidence)
VPS53
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pontocerebellar Hypoplasia
  • Pontocerebellar Hypoplasia type 2E
  • Pontocerebellar hypoplasia 2E (#615851)
Tags
Amber Amber List (moderate evidence)
ZNF423
4 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Joubert syndrome 19, OMIM:614844
  • Nephronophthisis 14, OMIM:614844
Tags
Red Red List (low evidence)
AARS
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
  • Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Tags
  • new-gene-name
Red Red List (low evidence)
ALAS2
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ALG10
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Progressive myoclonus epilepsy
  • CDG
Tags
Red Red List (low evidence)
ALG13
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Epileptic encephalopathy, early infantile, 36 300884
  • ALG13-CDG (Disorders of protein N-glycosylation)
Tags
Red Red List (low evidence)
ALG2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • ?Congenital disorder of glycosylation, type Ii 607906
  • Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
  • Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
Tags
Red Red List (low evidence)
ATN1
1 review
Other
Sources
  • Expert Review Red
Phenotypes
  • Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATP2B3
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
Tags
Red Red List (low evidence)
ATXN1
1 review
Other
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 1, OMIM:164400
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN10
1 review
Other
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 10, OMIM:603516
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN2
1 review
Other
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 2, OMIM:183090
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN3
1 review
Other
Sources
  • Expert Review Red
Phenotypes
  • Machado-Joseph disease, OMIM:109150
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN7
1 review
Other
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 7, OMIM:164500
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN8
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 8
Tags
  • ensembl_ids_known_missing
Red Red List (low evidence)
B9D1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
Tags
Red Red List (low evidence)
BEAN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 31 117210
Tags
Red Red List (low evidence)
BRF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cerebellofaciodental syndrome 616202
Tags
Red Red List (low evidence)
C1GALT1C1
2 reviews
1 red
Other - please specify in evaluation comments
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Tn polyagglutination syndrome, somatic 300622
  • COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
Tags
Red Red List (low evidence)
CACNB4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Episodic ataxia, type 5
  • Episodic Ataxia
Tags
Red Red List (low evidence)
CAD
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • ?Congenital disorder of glycosylation, type Iz 616457
Tags
Red Red List (low evidence)
CAMLG
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIz, OMIM:620201
Tags
Red Red List (low evidence)
CCDC28B
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Joubert syndrome, MONDO:0018772
Tags
Red Red List (low evidence)
CCDC88C
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • autosomal dominant spinocerebellar ataxia
Tags
Red Red List (low evidence)
CDK5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lissencephaly 7 with cerebellar hypoplasia 616342
Tags
Red Red List (low evidence)
COG2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Congenital disorder of glycosylation, type IIq, 617395
Tags
Red Red List (low evidence)
CYP2U1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 56, autosomal recessive OMIM:615030
  • hereditary spastic paraplegia 56 MONDO:0014015
Tags
Red Red List (low evidence)
DAB1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • cerebellar ataxia, MONDO:0000437
Tags
Red Red List (low evidence)
DDOST
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • ?Congenital disorder of glycosylation, type Ir 614507
Tags
Red Red List (low evidence)
DHDDS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Retinitis pigmentosa 59, OMIM:613861
  • ?Congenital disorder of glycosylation, type 1bb, OMIM:613861
Tags
Red Red List (low evidence)
DMXL2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Polyendocrine-polyneuropathy syndrome, OMIM:616113
Tags
Red Red List (low evidence)
DYNC1H1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Charcot Marie Tooth, SMA, Intellectual disability
Tags
Red Red List (low evidence)
ELOVL5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 36 (#615957)
Tags
Red Red List (low evidence)
EXOC3L2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Expert list
Phenotypes
  • Dandy-Walker malformation
  • enlarged echogenic kidneys
  • echogenic kidneys
  • hydrocephalus
  • anhydramnios
Tags
Red Red List (low evidence)
EXOC8
1 review
1 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
Tags
Red Red List (low evidence)
EXOSC1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia
Tags
Red Red List (low evidence)
EXOSC8
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia,type 1C, 616081
Tags
Red Red List (low evidence)
FMR1
3 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Fragile X tremor/ataxia syndrome, OMIM:300623
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
FRMD4A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
Tags
Red Red List (low evidence)
GALNT12
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Literature
Phenotypes
  • {Colorectal cancer, susceptibility to, 1} 608812
  • GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
Tags
Red Red List (low evidence)
GLS
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Glucosidase 1 deficiency (Disorders of protein N-glycosylation)
Tags
Red Red List (low evidence)
GLS_GCA
STR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
Tags
  • NGS Not Validated
  • STR
Red Red List (low evidence)
KIAA0556
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Joubert syndrome 26
Tags
  • new-gene-name
Red Red List (low evidence)
KIF14
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Meckel syndrome 12, OMIM:616258
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Tags
Red Red List (low evidence)
LFNG
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • ?Spondylocostal dysostosis 3, autosomal recessive 609813
  • O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Red Red List (low evidence)
MTPAP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ataxia, spastic, 4,
Tags
Red Red List (low evidence)
NAGLU
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
Tags
Red Red List (low evidence)
NMNAT2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • hydrops fetalis
  • cystic hygroma
  • bilateral hypoplastic lungs
  • hydrocephalus
  • hypoplastic cerebellum
  • severely reduced skeletal muscle mass or absence
  • flexion contractures of all extremities
  • micrognathia
  • cleft palate
  • hydropic placenta
Tags
Red Red List (low evidence)
NOP56
0 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 36, OMIM:614153
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
NUS1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • ?Congenital disorder of glycosylation, type 1aa 617082
Tags
Red Red List (low evidence)
OSTC
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Oligosaccharyltransferase complex-congenital disorders of glycosylation
Tags
Red Red List (low evidence)
PAX2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ataxia,spastic2,autosomalrecessive(2)
Tags
Red Red List (low evidence)
PCLO
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar Hypoplasia type 3
  • Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
Tags
Red Red List (low evidence)
PDE6D
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Joubert syndrome 22
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
  • ?Joubert syndrome 22, 615665
Tags
Red Red List (low evidence)
PIK3R5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ataxia-oculomotor apraxia 3
Tags
Red Red List (low evidence)
POMK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
Tags
Red Red List (low evidence)
PPP2R2B
1 review
Other
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 12, OMIM:604326
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
PRICKLE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Epilepsy, progressive myoclonic 1B, OMIM:612437
Tags
Red Red List (low evidence)
RABL2A
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • neural tube defects
Tags
Red Red List (low evidence)
RUBCN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705
Tags
  • founder-effect
Red Red List (low evidence)
SAR1B
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Chylomicron retention disease, OMIM:246700
Tags
Red Red List (low evidence)
SLC35A3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Arthrogryposis, mental retardation, and seizures 615553
Tags
Red Red List (low evidence)
STT3B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Other
Phenotypes
  • ?Congenital disorder of glycosylation, type Ix 615597
Tags
Red Red List (low evidence)
SYT14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia,autosomalrecessive11,614229
Tags
Red Red List (low evidence)
TAPT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Tags
Red Red List (low evidence)
TBC1D32
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
Tags
  • gene-checked
Red Red List (low evidence)
TBP
1 review
Other
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 17, OMIM:607136
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
TDP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Tags
Red Red List (low evidence)
TPR
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Cerebellar ataxia, MONDO:0000437
Tags
Red Red List (low evidence)
TRIP4
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures.
Tags
Red Red List (low evidence)
TUBB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 6, 615771
Tags
Red Red List (low evidence)
UBR4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Episodic ataxia
Tags
Red Red List (low evidence)
WDR63
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • occipital encephalocele and inconsistent brain lobulation
  • ciliopathy-like disorder
Tags
  • new-gene-name
Red Red List (low evidence)
ZFYVE26
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.
Tags
Red Red List (low evidence)
ZNF592
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 5
Tags
No list No list
HTT_CAG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Removed
  • Expert list
Phenotypes
  • Huntington disease, OMIM:143100
Tags
  • curated_removed
  • STR
No list No list
PTRH2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
Tags

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