The latest signed off version for the GMS is v15.2. The current version, shown here, may differ from the signed-off version.

Hereditary ataxia and cerebellar anomalies - childhood onset (Version 15.7)

Relevant disorders: Hereditary ataxia with onset in childhood, Cerebellar anomalies, R55, R84
This panel contains these 3 panels:
Ataxia and cerebellar anomalies - narrow panel v5.3
Congenital disorders of glycosylation v5.3
Neurological ciliopathies v4.1
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Latest signed off version: v15.2 (1 May 2024)
Previously signed off versions: v12.1, v9.1, v6.51

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 5.0) (https://panelapp.genomicsengland.co.uk/api/v1/panels/25/?version=5.0)
- Ataxia and cerebellar anomalies - narrow panel (Version 5.0) https://panelapp.genomicsengland.co.uk/api/v1/panels/477/?version=5.0)
- Neurological ciliopathies (Version 4.0) https://panelapp.genomicsengland.co.uk/api/v1/panels/724/?version=4.0)

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

495 Entities

345 reviewed, 373 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 495 Entitiess
Green Green List (high evidence)	AAAS Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polymicrogyria, bilateral frontoparietal 606854 Tags
Green Green List (high evidence)	ADPRHL2 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	AGTPBP1 Ataxia and cerebellar anomalies - narrow panel v5.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276 Tags
Green Green List (high evidence)	AHI1 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 10, Tags
Green Green List (high evidence)	AP1S2 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 8 Tags
Green Green List (high evidence)	ARMC9 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Metachromatic leukodystrophy (#250100) Tags
Green Green List (high evidence)	ASL Ataxia and cerebellar anomalies - narrow panel v5.3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815 Ataxia, HP:0001251 Tags
Green Green List (high evidence)	ATAD3A Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia-telangiectasia, OMIM:208900 Tags
Green Green List (high evidence)	ATP1A3 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Phenotypes Immunodeficiency 47 300972 Tags
Green Green List (high evidence)	ATP6V0A1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181 Tags
Green Green List (high evidence)	B3GALT6 Congenital disorders of glycosylation v5.3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Literature Radboud University Medical Center, Nijmegen 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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Congenital disorders of glycosylation v5.3	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 Neurological ciliopathies v4.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Stromme syndrome, OMIM:243605 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Tags
Green Green List (high evidence)	CEP104 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 15 Tags
Green Green List (high evidence)	CHMP1A Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 8, 614961 Tags
Green Green List (high evidence)	CHST14 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Green Green List (high evidence)	CP Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Congenital disorders of glycosylation v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 Tags
Green Green List (high evidence)	CYP27A1 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	DAGLA Ataxia and cerebellar anomalies - narrow panel v5.3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Ataxia, HP:0001251 Tags
Green Green List (high evidence)	DARS2 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	DLG4 Ataxia and cerebellar anomalies - narrow panel v5.3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 62, OMIM:618793 Tags
Green Green List (high evidence)	DNAJC19 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria, type V Tags
Green Green List (high evidence)	DNAJC3 Ataxia and cerebellar anomalies - narrow panel v5.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192 Tags
Green Green List (high evidence)	DNAJC5 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 34 Tags
Green Green List (high evidence)	EOGT Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) Tags
Green Green List (high evidence)	EVC Neurological ciliopathies v4.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ellis-van Creveld syndrome, OMIM:225500 Tags
Green Green List (high evidence)	EVC2 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Green Green List (high evidence)	EXT1 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 27 Tags
Green Green List (high evidence)	FKRP Ataxia and cerebellar anomalies - narrow panel v5.3	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)	FKRP Congenital disorders of glycosylation v5.3	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)	FKTN Ataxia and cerebellar anomalies - narrow panel v5.3	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)	FKTN Congenital disorders of glycosylation v5.3	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)	FLVCR1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 Tags
Green Green List (high evidence)	GEMIN5 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 2 Autosomal Recessive Ataxia Tags
Green Green List (high evidence)	GLI3 Neurological ciliopathies v4.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Greig cephalopolysyndactyly syndrome, OMIM:175700 Pallister-Hall syndrome, OMIM:146510 Tags
Green Green List (high evidence)	GMPPA Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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)	GMPPB Ataxia and cerebellar anomalies - narrow panel v5.3	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)	GNE Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	4 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Research Phenotypes Geroderma osteodysplasticum OMIM:231070 geroderma osteodysplastica MONDO:0009271 Tags
Green Green List (high evidence)	GOSR2 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 6, 614018 Tags
Green Green List (high evidence)	GPAA1 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green Green List (high evidence)	GRID2 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green Green List (high evidence)	GRM1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Hydrolethalus syndrome, 236680 Tags
Green Green List (high evidence)	ICK Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	ISPD Congenital disorders of glycosylation v5.3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory 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)	ISPD Ataxia and cerebellar anomalies - narrow panel v5.3	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)	ITPR1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 13 Tags
Green Green List (high evidence)	KCND3 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Spinocerebellarataxia19,607346 Tags
Green Green List (high evidence)	KCNJ10 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	LAMA1 Neurological ciliopathies v4.1	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)	LARGE1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	LETM1 Ataxia and cerebellar anomalies - narrow panel v5.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags
Green Green List (high evidence)	MAG Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia 3, autosomal recessive Tags
Green Green List (high evidence)	MGAT2 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes Neuropathy, Ataxia, and Retinitis Pigmentosa Tags gene-checked
Green Green List (high evidence)	MTCL1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Abetalipoproteinemia, 200100 Tags
Green Green List (high evidence)	MVK Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) Tags
Green Green List (high evidence)	NKX2-1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Niemann-Pick disease type C2, 607625 Tags
Green Green List (high evidence)	NPHP1 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation Tags
Green Green List (high evidence)	PDYN Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 23 Tags
Green Green List (high evidence)	PEX16 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Literature Phenotypes Hyperphosphatasia with mental retardation syndrome 4 615716 Tags
Green Green List (high evidence)	PGM1 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Literature Phenotypes Immunodeficiency 23 615816 Tags
Green Green List (high evidence)	PI4KA Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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)	PIGM Congenital disorders of glycosylation v5.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Glycosylphosphatidylinositol deficiency, OMIM:610293 Tags non-coding-known-pathogenic promoter
Green Green List (high evidence)	PIGN Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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)	PMM2 Neurological ciliopathies v4.1	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)	PMPCA Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia with oculomotor apraxia 4 (#616267) Tags
Green Green List (high evidence)	PNPLA6 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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)	POMGNT2 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	POMK Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	POMT1 Congenital disorders of glycosylation v5.3	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)	POMT2 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 14 Tags
Green Green List (high evidence)	PRNP Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pancreatic and cerebellar agenesis, 609069 Tags
Green Green List (high evidence)	RARS2 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lissencephaly 2, 257320 Tags
Green Green List (high evidence)	RFT1 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Green Green List (high evidence)	RNF220 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type Tags
Green Green List (high evidence)	SCLT1 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS 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
Green Green List (high evidence)	SEPSECS Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green Green List (high evidence)	SLC17A5 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Tags
Green Green List (high evidence)	TCTN2 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	THG1L Ataxia and cerebellar anomalies - narrow panel v5.3	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800, MONDO:0032923 Tags gene-checked
Green Green List (high evidence)	TINF2 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	3 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, 10 615041 Tags new-gene-name
Green Green List (high evidence)	TMEM67 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 7 614969 Tags
Green Green List (high evidence)	TOGARAM1 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 11 Tags
Green Green List (high evidence)	TTC19 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Lissencephaly 3 6,1603 Tags
Green Green List (high evidence)	TUBB2B Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	4 reviews 4 green	BOTH monoallelic and 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
Green Green List (high evidence)	VLDLR Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 Tags
Green Green List (high evidence)	VPS41 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia type 1A, OMIM:607596 Tags
Green Green List (high evidence)	WDR73 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Wolfram syndrome 1, OMIM:222300 Tags
Green Green List (high evidence)	WWOX Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal recessive spinocerebellar ataxia 12, 614322 Tags
Green Green List (high evidence)	XRCC1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	ARL3 Neurological ciliopathies v4.1	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)	ATN1_CAG STR Ataxia and cerebellar anomalies - narrow panel v5.3	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)	ATP2B3 Ataxia and cerebellar anomalies - narrow panel v5.3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 Tags Q2_24_promote_green
Amber Amber List (moderate evidence)	ATXN10_ATTCT STR Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 Tags watchlist
Amber Amber List (moderate evidence)	CHP1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	Unknown	Sources Expert Review Amber Phenotypes congenital muscular dystrophies Tags
Amber Amber List (moderate evidence)	DCC Ataxia and cerebellar anomalies - narrow panel v5.3	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)	EEF2 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	EXOC3L2 Neurological ciliopathies v4.1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Dandy-Walker malformation enlarged echogenic kidneys echogenic kidneys hydrocephalus anhydramnios Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	EXOSC5 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	LIG3 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neu-Laxova syndrome 1, 256520 Tags
Amber Amber List (moderate evidence)	POC1B Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes Tags
Amber Amber List (moderate evidence)	SSR3 Congenital disorders of glycosylation v5.3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation Tags
Amber Amber List (moderate evidence)	SVBP Ataxia and cerebellar anomalies - narrow panel v5.3	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 gene-checked
Amber Amber List (moderate evidence)	TBP_CAG STR Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	TMEM106B Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 Tags
Amber Amber List (moderate evidence)	VAMP1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	ZFHX3 Ataxia and cerebellar anomalies - narrow panel v5.3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Amber Phenotypes Spinocerebellar ataxia 4, OMIM:600223 spinocerebellar ataxia type 4, MONDO:0010847 Tags STR
Amber Amber List (moderate evidence)	ZNF423 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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)	ATXN1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Cerebellofaciodental syndrome 616202 Tags
Red Red List (low evidence)	C1GALT1C1 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lissencephaly 7 with cerebellar hypoplasia 616342 Tags
Red Red List (low evidence)	COG2 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes cerebellar ataxia, MONDO:0000437 Tags
Red Red List (low evidence)	DDOST Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Spinocerebellar ataxia 36 (#615957) Tags
Red Red List (low evidence)	EXOC8 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia Tags
Red Red List (low evidence)	EXOSC8 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	Unknown	Sources Expert Review Red Phenotypes Pontocerebellar hypoplasia,type 1C, 616081 Tags
Red Red List (low evidence)	FMR1 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	1 review	Unknown	Sources Literature Phenotypes Glucosidase 1 deficiency (Disorders of protein N-glycosylation) Tags
Red Red List (low evidence)	GLS_GCA STR Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Joubert syndrome 26 Tags new-gene-name
Red Red List (low evidence)	KIF14 Neurological ciliopathies v4.1	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ataxia, spastic, 4, Tags
Red Red List (low evidence)	NAGLU Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	Unknown	Sources Expert Review Red Phenotypes Ataxia,spastic2,autosomalrecessive(2) Tags
Red Red List (low evidence)	PCLO Ataxia and cerebellar anomalies - narrow panel v5.3	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ataxia-oculomotor apraxia 3 Tags
Red Red List (low evidence)	POMK Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Epilepsy, progressive myoclonic 1B, OMIM:612437 Tags
Red Red List (low evidence)	RABL2A Neurological ciliopathies v4.1	1 review 1 red	Unknown	Sources Literature Phenotypes neural tube defects Tags
Red Red List (low evidence)	RUBCN Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Congenital disorders of glycosylation v5.3	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 Congenital disorders of glycosylation v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellarataxia,autosomalrecessive11,614229 Tags
Red Red List (low evidence)	TAPT1 Neurological ciliopathies v4.1	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 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Cerebellar ataxia, MONDO:0000437 Tags
Red Red List (low evidence)	TRIP4 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Episodic ataxia Tags
Red Red List (low evidence)	WDR63 Neurological ciliopathies v4.1	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 Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 5 Tags
No list No list	HTT_CAG STR Ataxia and cerebellar anomalies - narrow panel v5.3	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 Ataxia and cerebellar anomalies - narrow panel v5.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease Tags

Major version comments

2018-12-20 14:14 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
Promoting to Version 1 to allow a super panel to be built.

Hereditary ataxia and cerebellar anomalies - childhood onset (Version 15.7)

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