Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AAAS gene AAAS Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279 False 3 0;0;0 22.109 False ENSG00000094914 ENSG00000094914 HGNC:13666 ABCB7 gene ABCB7 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia, OMIM:301310 False 3 0;0;0 22.109 False ENSG00000131269 ENSG00000131269 HGNC:48 ABHD12 gene ABHD12 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC);Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract False 3 0;0;0 22.109 False ENSG00000100997 ENSG00000100997 HGNC:15868 ACBD6 gene ACBD6 Expert Review Green;NHS GMS Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785 21937992;32108178;36457943;37951597 False 3 50;0;50 22.109 False ENSG00000230124 ENSG00000230124 HGNC:23339 ACO2 gene ACO2 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, OMIM:614559;Infantile cerebellar-retinal degeneration, MONDO:0013802 26992325;28545339;30689204;32519519 False 3 100;0;0 22.109 False ENSG00000100412 ENSG00000100412 HGNC:118 ADGRG1 gene ADGRG1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal 606854 15044805 False 3 0;0;0 22.109 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADPRHL2 gene ADPRHL2 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170;neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 30100084;30401461;39580621 False 3 100;0;0 22.109 False ENSG00000116863 ENSG00000116863 HGNC:21304 AFG3L2 gene AFG3L2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 False 3 0;0;0 22.109 False Other - please provide details in the comments ENSG00000141385 ENSG00000141385 HGNC:315 AGTPBP1 gene AGTPBP1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276 30420557 False 3 100;0;0 22.109 False ENSG00000135049 ENSG00000135049 HGNC:17258 AHI1 gene AHI1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3;Joubert syndrome;Joubert syndrome-3. False 3 100;0;0 22.109 False ENSG00000135541 ENSG00000135541 HGNC:21575 ALDH5A1 gene ALDH5A1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 14635103;32887777 False 3 100;0;0 22.109 False ENSG00000112294 ENSG00000112294 HGNC:408 ALG1 gene ALG1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik 608540;Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation) 22966035;14973782;26931382 False 3 100;0;0 22.109 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ip 613661; ALG11-CDG (Disorders of protein N-glycosylation) 27604308;22213132 False 3 100;0;0 22.109 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) 27604308;17506107;11983712 False 3 100;0;0 22.109 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG14 gene ALG14 Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) 27604308;23404334;30221345;28733338 False 3 100;0;0 22.109 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG3 gene ALG3 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id 601110;Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation) 15108280;19862844 False 3 100;0;0 22.109 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) 10914684 False 3 100;0;0 22.109 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih 608104; Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation) 12480927;15235028 False 3 100;0;0 22.109 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ALG9-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Il 608776;Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation) 27604308;15148656;25966638 False 3 100;0;0 22.109 False ENSG00000086848 ENSG00000086848 HGNC:15672 AMPD2 gene AMPD2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).;pontocerebellar hypoplasia type 9, 615809;Pontocerebellar hypoplasia 9 (#615809) PMID: 24482476 False 3 0;0;0 22.109 False ENSG00000116337 ENSG00000116337 HGNC:469 ANO10 gene ANO10 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, False 3 0;0;0 22.109 False ENSG00000160746 ENSG00000160746 HGNC:25519 AP1S2 gene AP1S2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pettigrew syndrome, OMIM:304340 False 3 0;0;0 22.109 False ENSG00000182287 ENSG00000182287 HGNC:560 APTX gene APTX Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia with Oculomotor Apraxia;Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia False 3 0;0;0 22.109 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARL13B gene ARL13B Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 18674751;25138100 False 3 100;0;0 22.109 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARMC9 gene ARMC9 Expert Review Green;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, 617622 28625504 False 3 100;0;0 22.109 False ENSG00000135931 ENSG00000135931 HGNC:20730 ARSA gene ARSA Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy (#250100) False 3 0;0;0 22.109 False ENSG00000100299 ENSG00000100299 HGNC:713 ASL gene ASL NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, OMIM:207900;argininosuccinic aciduria, MONDO:0008815;Ataxia, HP:0001251 38044746;36994644;28251416;12384776;17326097;29326055 False 3 100;0;0 22.109 False ENSG00000126522 ENSG00000126522 HGNC:746 ATAD3A gene ATAD3A NHS GMS;Expert Review Green;Expert Review Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 27640307;28549128;29053797;31727539;32607449;33845882 False 3 100;0;0 22.109 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATCAY gene ATCAY Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, cerebellar, Cayman type OMIM:601238;Cayman type cerebellar ataxia MONDO:0011025 29449188;14556008;23226316;26343454 False 3 50;50;0 22.109 False ENSG00000167654 ENSG00000167654 HGNC:779 ATG7 gene ATG7 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422 34161705 False 3 100;0;0 22.109 False ENSG00000197548 ENSG00000197548 HGNC:16935 ATM gene ATM Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 False 3 0;0;0 22.109 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP1A3 gene ATP1A3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338);Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) False 3 0;0;0 22.109 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP2B3 gene ATP2B3 Expert Review Green;NHS GMS Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 25953895;28807751;36207321 False 3 100;0;0 22.109 False ENSG00000067842 ENSG00000067842 HGNC:816 ATP6AP1 gene ATP6AP1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency 47 300972" 27231034 False 3 100;0;0 22.109 False ENSG00000071553 ENSG00000071553 HGNC:868 ATP6V0A1 gene ATP6V0A1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ATP6V0A1-related developmental disorder (monoallelic) 30842224;33057194;34909687;33833240 False 3 75;25;0 22.109 False ENSG00000033627 ENSG00000033627 HGNC:865 ATP6V0A2 gene ATP6V0A2 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 20301755 False 3 100;0;0 22.109 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP8A2 gene ATP8A2 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268;cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104 22892528;29531481;30012219;31612321;27679995;20683487 False 3 100;0;0 22.109 False ENSG00000132932 ENSG00000132932 HGNC:13533 B3GALNT2 gene B3GALNT2 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181" 23453667 False 3 100;0;0 22.109 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALNT2 gene B3GALNT2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11;congenital muscular dystrophies 23453667 False 3 0;0;0 22.109 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Literature;UKGTN Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Ehlers-Danlos syndrome, progeroid type, 2 615349;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640" 23664117;23664118 False 3 100;0;0 22.109 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 21763480;27871226;26086840 False 3 100;0;0 22.109 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 16909395;23889335 False 3 100;0;0 22.109 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALNT1 gene B4GALNT1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, OMIM:609195;Hereditary spastic paraplegia 26, MONDO:0012213 23746551;24103911 False 3 100;0;0 22.109 False ENSG00000135454 ENSG00000135454 HGNC:4117 B4GALT1 gene B4GALT1 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IId, OMIM:607091 21920538;11901181 False 3 100;0;0 22.109 False ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 27827381 False 3 100;0;0 22.109 False ENSG00000027847 ENSG00000027847 HGNC:930 B4GAT1 gene B4GAT1 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 23359570;23877401;23217742 False 3 100;0;0 22.109 False ENSG00000174684 ENSG00000174684 HGNC:15685 B9D2 gene B9D2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes;26092869 - two further cases with Joubert syndrome reported from two different families False 3 0;0;100 22.109 False ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 15637713 False 3 100;0;0 22.109 False ENSG00000174483 ENSG00000174483 HGNC:966 C2CD3 gene C2CD3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal short-rib polydactyly syndromes (SRPS;MIM208500);MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD;?Orofaciodigital syndrome XIV, 615948;Orofaciodigital syndromes (OFDS, MIM 311200) 24997988;26044959;27094867 False 3 0;50;50 22.109 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Oral-facial-digital syndrome type VI;Joubert syndrome 17 22693042;25920555;22425360 False 3 100;0;0 22.109 False ENSG00000197603 ENSG00000197603 HGNC:25801 CA8 gene CA8 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227;Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 21885617 False 3 0;0;0 22.109 False ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1A gene CACNA1A NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 False 3 0;0;0 22.109 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1G gene CACNA1G Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42 616795 25558065;29878067;17397049;28726809 False 3 0;0;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000006283 ENSG00000006283 HGNC:1394 CAD gene CAD NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 50, OMIM:616457 25678555;28007989;32820246 False 3 100;0;0 22.109 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAMTA1 gene CAMTA1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebellarataxia, nonprogressive, with mental retardation, 614756 False 3 0;0;0 22.109 False ENSG00000171735 ENSG00000171735 HGNC:18806 CASK gene CASK Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 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 21954287;20595373;32700313;33090494;33272775;35149592 False 3 0;0;0 22.109 False ENSG00000147044 ENSG00000147044 HGNC:1497 CBY1 gene CBY1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal intellectual disability;cerebellar ataxia;molar tooth sign;polydactyly;Joubert syndrome 33131181;25103236;25220153 False 3 100;0;0 22.109 False ENSG00000100211 ENSG00000100211 HGNC:1307 CC2D2A gene CC2D2A Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9;COACH syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome 6;Meckel syndrome False 3 100;0;0 22.109 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC115 gene CCDC115 Expert Review Green;Other Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIo 616828 26833332 False 3 100;0;0 22.109 False ENSG00000136710 ENSG00000136710 HGNC:28178 CDK5 gene CDK5 Expert Review Green;NHS GMS Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342;lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596 25560765;40186457;28854363;8855328;15067135 False 3 100;0;0 22.109 False ENSG00000164885 ENSG00000164885 HGNC:1774 CENPF gene CENPF Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 26820108 False 3 100;0;0 22.109 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP104 gene CEP104 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781;Joubert syndrome 25 26477546 False 3 100;0;0 22.109 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP290 gene CEP290 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 610189;Meckel syndrome 4;Senior-Loken syndrome;611755;Joubert syndrome 5;Joubert syndrome with oculorenal defect;610188;Senior-Loken syndrome 6;611134;Meckel syndrome 20690115;18327255 False 3 50;0;50 22.109 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15 22246503 False 3 100;0;0 22.109 False ENSG00000106477 ENSG00000106477 HGNC:12370 CHMP1A gene CHMP1A Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, 614961 23023333 False 3 0;0;0 22.109 False ENSG00000131165 ENSG00000131165 HGNC:8740 CHST14 gene CHST14 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 26646600 False 3 100;0;0 22.109 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 20830804 False 3 100;0;0 22.109 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHST6 gene CHST6 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Macular corneal dystrophy 217800; CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 16568029 False 3 100;0;0 22.109 False ENSG00000183196 ENSG00000183196 HGNC:6938 CHSY1 gene CHSY1 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 24269551;21129727 False 3 100;0;0 22.109 False ENSG00000131873 ENSG00000131873 HGNC:17198 CLCN2 gene CLCN2 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, OMIM:615651 23707145;26539602;28473625;31291907 False 3 0;0;0 22.109 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLN5 gene CLN5 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745 25359263 False 3 100;0;0 22.109 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 False 3 0;0;0 22.109 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLP1 gene CLP1 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 10 OMIM:615803;Pontocerebellar hypoplasia type 10 MONDO:0014349 24766810;24766809;29307788 False 3 100;0;0 22.109 False ENSG00000172409 ENSG00000172409 HGNC:16999 COA7 gene COA7 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 29718187;27683825;30885959 False 3 100;0;0 22.109 False ENSG00000162377 ENSG00000162377 HGNC:25716 COG1 gene COG1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) False 3 100;0;0 22.109 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 11980916;19494034;19651599;21185756 False 3 100;0;0 22.109 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 11980916;19690088;23228021;23430875;28960046 False 3 100;0;0 22.109 False ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 11980916;26260076 False 3 100;0;0 22.109 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 11980916;15107842 False 3 100;0;0 22.109 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 11980916;17331980;17220172 False 3 100;0;0 22.109 False ENSG00000213380 ENSG00000213380 HGNC:18623 COQ4 gene COQ4 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276 30225196;30847826;33215859;33704555;36047608 False 3 100;0;0 22.109 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ8A gene COQ8A Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 4, 612016;Spinocerebellar Ataxia Type False 3 0;0;0 22.109 False ENSG00000163050 ENSG00000163050 HGNC:16812 COX20 gene COX20 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 3 0;0;0 22.109 False ENSG00000203667 ENSG00000203667 HGNC:26970 CP gene CP Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, 604290;Hemosiderosis, systemic, due to aceruloplasminemia, 604290 False 3 0;0;0 22.109 False ENSG00000047457 ENSG00000047457 HGNC:2295 CRB2 gene CRB2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease 219730 25557780 False 3 100;0;0 22.109 False ENSG00000148204 ENSG00000148204 HGNC:18688 CRNKL1 gene CRNKL1 Expert Review Green;NHS GMS;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436;complex neurodevelopmental disorder, MONDO:0100038 40857589 False 3 100;0;0 22.109 False ENSG00000101343 ENSG00000101343 HGNC:15762 CSGALNACT1 gene CSGALNACT1 Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 31705726;31325655;31705726 False 3 100;0;0 22.109 False ENSG00000147408 ENSG00000147408 HGNC:24290 CSPP1 gene CSPP1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Meckel syndrome;Joubert syndrome 21;Meckel-Gruber syndrome 24360807;24360803;24360808 False 3 100;0;0 22.109 False ENSG00000104218 ENSG00000104218 HGNC:26193 CSTB gene CSTB NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800;Unverricht-Lundborg syndrome MONDO:0009698 8596935;15483648;9012407;9054946;9090386;11571333;9342192;15329070 False 3 100;0;0 22.109 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTBP1 gene CTBP1 Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 27094857;28955726;31041561 False 3 100;0;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000159692 ENSG00000159692 HGNC:2494 CWF19L1 gene CWF19L1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17, 616127 26197978, 25361784, 27016154 False 3 0;0;0 22.109 False ENSG00000095485 ENSG00000095485 HGNC:25613 CYP27A1 gene CYP27A1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 False 3 0;0;0 22.109 False ENSG00000135929 ENSG00000135929 HGNC:2605 DAGLA gene DAGLA NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ataxia, HP:0001251 35737950 False 3 100;0;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000134780 ENSG00000134780 HGNC:1165 DARS2 gene DARS2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 False 3 0;0;0 22.109 False ENSG00000117593 ENSG00000117593 HGNC:25538 DDHD2 gene DDHD2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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. False 3 0;0;0 22.109 False ENSG00000085788 ENSG00000085788 HGNC:29106 DDOST gene DDOST NHS GMS;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir, OMIM:614507 22305527;34462534 False 3 67;0;33 22.109 False ENSG00000244038 ENSG00000244038 HGNC:2728 DDX59 gene DDX59 Expert Review Green;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 29127725;23972372;28711741 False 3 50;0;50 22.109 False ENSG00000118197 ENSG00000118197 HGNC:25360 DHCR7 gene DHCR7 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 9634533 False 3 100;0;0 22.109 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay and seizures with or without movement abnormalities, OMIM:617836 29100083;33798445;34182312;34382076 False 3 100;0;0 22.109 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHRSX gene DHRSX NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, OMIM:301133 38821050 False 3 50;0;50 22.109 False ENSG00000169084 ENSG00000169084 HGNC:18399 DKC1 gene DKC1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked OMIM:305000;dyskeratosis congenita, X-linked MONDO:0010584 9590285;9886310;10921354;33734615;10583221;10700698;18627054;12437656 False 3 50;0;50 22.109 False ENSG00000130826 ENSG00000130826 HGNC:2890 DLG4 gene DLG4 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 62, OMIM:618793 33597769 False 3 100;0;0 22.109 False ENSG00000132535 ENSG00000132535 HGNC:2903 DNAJC19 gene DNAJC19 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V 16055927;27604308;27426421;22797137;27928778 False 3 0;0;0 22.109 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC3 gene DNAJC3 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192 25466870;28940199;32738013;33486469;34654017 False 3 100;0;0 22.109 False ENSG00000102580 ENSG00000102580 HGNC:9439 DNAJC5 gene DNAJC5 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid lipofuscinosis, neuronal, 4, Parry type 27604308;21820099 False 3 0;0;0 22.109 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNMT1 gene DNMT1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 31984424 False 3 0;0;0 22.109 False ENSG00000130816 ENSG00000130816 HGNC:2976 DOCK3 gene DOCK3 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292;neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661 28195318;29130632;30976111 False 3 100;0;0 22.109 False ENSG00000088538 ENSG00000088538 HGNC:2989 DOLK gene DOLK Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 22242004;24144945 False 3 100;0;0 22.109 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 12872255;22304930;30653653 False 3 100;0;0 22.109 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799;GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 23856421 False 3 100;0;0 22.109 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 NHS GMS;Expert Review Green;Radboud University Medical Center, Nijmegen;Other;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, OMIM:615042 23109149;26453362;33129689 False 3 100;0;0 22.109 False ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 19576565;28803818 False 3 0;0;100 22.109 False ENSG00000179085 ENSG00000179085 HGNC:3007 DPYSL5 gene DPYSL5 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities 33894126 False 3 100;0;0 22.109 False ENSG00000157851 ENSG00000157851 HGNC:20637 EBF3 gene EBF3 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotonia, ataxia, and delayed development syndrome OMIM:617330;hypotonia, ataxia, and delayed development syndrome MONDO:0015021 28017373;28017372;28017370;32366537 False 3 100;0;0 22.109 False ENSG00000108001 ENSG00000108001 HGNC:19087 EDEM3 gene EDEM3 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 2V, OMIM:619493 34143952 False 3 100;0;0 22.109 False ENSG00000116406 ENSG00000116406 HGNC:16787 EEFSEC gene EEFSEC Expert Review Green;NHS GMS;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102 39753114 False 3 100;0;0 22.109 False ENSG00000132394 ENSG00000132394 HGNC:24614 EIF2B1 gene EIF2B1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease;Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter False 3 0;0;0 22.109 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease;Leukoencephalopathy with vanishing white matter, 603896 False 3 0;0;0 22.109 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease False 3 0;0;0 22.109 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease False 3 0;0;0 22.109 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease False 3 0;0;0 22.109 False ENSG00000145191 ENSG00000145191 HGNC:3261 ELOVL4 gene ELOVL4 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 34 24566826;26010696 False 3 0;0;0 22.109 False ENSG00000118402 ENSG00000118402 HGNC:14415 EOGT gene EOGT NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4 OMIM:615297;Adams-Oliver syndrome 4 MONDO:0014124 23522784;31368252;29924900 False 3 100;0;0 22.109 False ENSG00000163378 ENSG00000163378 HGNC:28526 EPM2A gene EPM2A Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 27604308;10932264;14722920 False 3 0;0;0 22.109 False ENSG00000112425 ENSG00000112425 HGNC:3413 EVC gene EVC Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500 False 3 0;0;0 22.109 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500;Weyers acrofacial dysostosis, OMIM:193530 38531627;23220543;19810119;16404586 False 3 100;0;0 22.109 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXOC3L2 gene EXOC3L2 Expert Review Green;NHS GMS;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, OMIM:620943 28749478;27894351;30327448;34974531 False 3 50;25;25 22.109 False ENSG00000130201 ENSG00000283632 HGNC:30162 EXOSC3 gene EXOSC3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 PMID: 24524299;PMID: 23284067;PMID: 22544365;PMID: 23564332 False 3 0;0;0 22.109 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC5 gene EXOSC5 Expert Review Green;NHS GMS;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Short stature;Motor developmental delays;Cerebellar hypoplasia;Ataxia 32504085;29302074;34089229;30950035 False 3 100;0;0 22.109 False ENSG00000077348 ENSG00000077348 HGNC:24662 EXOSC8 gene EXOSC8 Expert Review Green;NHS GMS Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, OMIM:616081 24989451;38017281;34210538 False 3 100;0;0 22.109 False ENSG00000120699 ENSG00000120699 HGNC:17035 EXT1 gene EXT1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exostoses, multiple, type 1 133700;Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) 12417417 False 3 100;0;0 22.109 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Seizures, scoliosis, and macrocephaly syndrome 616682; Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) 12417417 False 3 100;0;0 22.109 False ENSG00000151348 ENSG00000151348 HGNC:3513 FA2H gene FA2H NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive OMIM:612319;hereditary spastic paraplegia 35 MONDO:0012866 31135052;31837835;30446360;22965561;21592092 False 3 100;0;0 22.109 False ENSG00000103089 ENSG00000103089 HGNC:21197 FAM149B1 gene FAM149B1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 36, OMIM:618763 30905400;34828254 False 3 67;33;0 22.109 False ENSG00000138286 ENSG00000138286 HGNC:29162 FBXL4 gene FBXL4 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471;mitochondrial DNA depletion syndrome 13 MONDO:0014198 28383868 False 3 100;0;0 22.109 False ENSG00000112234 ENSG00000112234 HGNC:13601 FDXR gene FDXR Expert Review Green;NHS GMS;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 37046037 False 3 100;0;0 22.109 False ENSG00000161513 ENSG00000161513 HGNC:3642 FEM1C gene FEM1C NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ataxia, HP:0001251 36336956 False 3 100;0;0 22.109 False ENSG00000145780 ENSG00000145780 HGNC:16933 FGF14 gene FGF14 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 27 False 3 0;0;0 22.109 False ENSG00000102466 ENSG00000102466 HGNC:3671 FKRP gene FKRP Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 27421908 False 3 100;0;0 22.109 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKRP gene FKRP Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 15121789 False 3 0;0;0 22.109 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 27421908 False 3 100;0;0 22.109 False ENSG00000106692 ENSG00000106692 HGNC:3622 FKTN gene FKTN Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Fukuyama Congenital Muscular Dystrophy;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;Fukuyama congenital muscular dystrophy 9690476;10545611 False 3 0;0;0 22.109 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLVCR1 gene FLVCR1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Retinopathy-sensory neuropathy syndrome, OMIM:609033;posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 False 3 0;0;0 22.109 False ENSG00000162769 ENSG00000162769 HGNC:24682 FOLR1 gene FOLR1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068 False 3 0;0;0 22.109 False ENSG00000110195 ENSG00000110195 HGNC:3791 FRMD5 gene FRMD5 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094 36206744 False 3 100;0;0 22.109 False ENSG00000171877 ENSG00000171877 HGNC:28214 FTH1 gene FTH1 Expert Review Green;Wessex and West Midlands GLH;London South GLH;Yorkshire and North East GLH;NHS GMS;North West GLH Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 9, OMIM:620669;?Hemochromatosis, type 5 OMIM:615517;hemochromatosis type 5 MONDO:0014225 11389486;37660254;37265023 False 3 56;22;22 22.109 False ENSG00000167996 ENSG00000167996 HGNC:3976 FUK gene FUK NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324;congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 30503518;35718084;36426412 False 3 50;50;0 22.109 False ENSG00000157353 ENSG00000157353 HGNC:29500 FUT8 gene FUT8 Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005 29304374 False 3 100;0;0 22.109 False ENSG00000033170 ENSG00000033170 HGNC:4019 FXN gene FXN Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 False 3 0;0;0 22.109 False ENSG00000165060 ENSG00000165060 HGNC:3951 G6PC3 gene G6PC3 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Dursun syndrome OMIM:612541;Neutropenia, severe congenital 4, autosomal recessive OMIM:612541;autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930 19118303;21385794;20616219 False 3 100;0;0 22.109 False ENSG00000141349 ENSG00000141349 HGNC:24861 GALNT2 gene GALNT2 Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt 618885 27508872;32293671 False 3 100;0;0 22.109 False ENSG00000143641 ENSG00000143641 HGNC:4124 GALNT3 gene GALNT3 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial 211900;Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) 15133511 False 3 100;0;0 22.109 False ENSG00000115339 ENSG00000115339 HGNC:4125 GBA2 gene GBA2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, 614409 23332916 False 3 0;0;0 22.109 False ENSG00000070610 ENSG00000070610 HGNC:18986 GEMIN5 gene GEMIN5 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333 33963192 False 3 100;0;0 22.109 False ENSG00000082516 ENSG00000082516 HGNC:20043 GFAP gene GFAP Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Ataxia;Alexander disease False 3 0;0;0 22.109 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFPT1 gene GFPT1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542 23569079 False 3 100;0;0 22.109 False ENSG00000198380 ENSG00000198380 HGNC:4241 GJC2 gene GJC2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2;Autosomal Recessive Ataxia False 3 0;0;0 22.109 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLI3 gene GLI3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 3 0;0;0 22.109 False ENSG00000106571 ENSG00000106571 HGNC:4319 GMPPA gene GMPPA Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) 24035193;28574218 False 3 100;0;0 22.109 False ENSG00000144591 ENSG00000144591 HGNC:22923 GMPPB gene GMPPB Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "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" 28456886;27874200;25681410;26133662;23768512 False 3 100;0;0 22.109 False ENSG00000173540 ENSG00000173540 HGNC:22932 GMPPB gene GMPPB Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 23768512 False 3 0;0;0 22.109 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNE gene GNE Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy 605820;ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 26721333 False 3 100;0;0 22.109 False ENSG00000159921 ENSG00000159921 HGNC:23657 GORAB gene GORAB NHS GMS;Expert Review Green;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Research Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum OMIM:231070;geroderma osteodysplastica MONDO:0009271 26000619;18348262;28807865;30631079 False 3 75;0;25 22.109 False ENSG00000120370 ENSG00000120370 HGNC:25676 GOSR2 gene GOSR2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018 24285620;21549339;20301317 False 3 0;0;0 22.109 False ENSG00000108433 ENSG00000108433 HGNC:4431 GPAA1 gene GPAA1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, 617810 29100095;24896178 False 3 0;0;0 22.109 False ENSG00000197858 ENSG00000197858 HGNC:4446 GRID2 gene GRID2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 18, 616204;Progressive cerebellar ataxia, HP:0002073;autosomal recessive spinocerebellar ataxia 18, MONDO:0014530 9285588;21460832;25841024;35882834;37944084;23611888;24078737 False 3 100;0;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000152208 ENSG00000152208 HGNC:4576 GRM1 gene GRM1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia 44, OMIM:617691;Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831 22901947;26308914;31319223;36140834;28886343 False 3 0;0;0 22.109 False ENSG00000152822 ENSG00000152822 HGNC:4593 GRN gene GRN Expert Review Green;NHS GMS;London North GLH Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Ceroid lipofuscinosis, neuronal, 11 OMIM:614706;neuronal ceroid lipofuscinosis 11 MONDO:0013866" 22608501;27021778;28000352;28404863;30922528;31855245 False 3 67;33;0 22.109 False ENSG00000030582 ENSG00000030582 HGNC:4601 HEATR5B gene HEATR5B Expert Review Green;NHS GMS;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia, MONDO:0020135;intellectual disability, MONDO:0001071;seizures 33824466 False 3 67;33;0 22.109 False ENSG00000008869 ENSG00000008869 HGNC:29273 HEXA gene HEXA Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 False 3 0;0;0 22.109 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 False 3 0;0;0 22.109 False ENSG00000049860 ENSG00000049860 HGNC:4879 HMBS gene HMBS Expert Review Green;NHS GMS;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, HP:0002352;cerebellar ataxia, MONDO:0000437 1577472;15828996;27558376;34089223 False 3 100;0;0 22.109 False ENSG00000256269 ENSG00000256269 HGNC:4982 HYLS1 gene HYLS1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Hydrolethalus syndrome, 236680 26830932 - report in two siblings with Joubert syndrome;19656802 - impairment in ciligenesis;18648327 - Hydrolethalus syndrome;15843405 - Hydrolethalus syndrome False 3 0;0;0 22.109 False ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review Green;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282;27069622;27466187 False 3 0;0;0 22.109 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFT74 gene IFT74 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 40, OMIM:619582;Joubert syndrome 40, MONDO:0030462 33531668 False 3 100;0;0 22.109 False ENSG00000096872 ENSG00000096872 HGNC:21424 INPP4A gene INPP4A Expert Review Green;NHS GMS;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;Cerebellar hypoplasia, HP:0001321 39315527;40748307;40772914 False 3 100;0;0 22.109 False ENSG00000040933 ENSG00000040933 HGNC:6074 INPP5E gene INPP5E Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 1 23386033;26748598 False 3 100;0;0 22.109 False ENSG00000148384 ENSG00000148384 HGNC:21474 INTS11 gene INTS11 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 37054711 False 3 100;0;0 22.109 False ENSG00000127054 ENSG00000127054 HGNC:26052 IRF2BPL gene IRF2BPL NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 30057031;28135719;25363768;30166628 False 3 100;0;0 22.109 False ENSG00000119669 ENSG00000119669 HGNC:14282 ISPD gene ISPD Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, alpha-dystroglycan related;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 22522420 False 3 0;0;0 22.109 False ENSG00000214960 ENSG00000214960 HGNC:37276 ISPD gene ISPD Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052" 26404900;26687144 False 3 100;0;0 22.109 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITPR1 gene ITPR1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spinocerebellar ataxia 29;Gillespie syndrome 206700;Spinocerebellar ataxia 15;Spinocerebellar ataxia 29, congenital nonprogressive False 3 0;0;0 22.109 False Other - please provide details in the comments ENSG00000150995 ENSG00000150995 HGNC:6180 KCNA1 gene KCNA1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia/myokymia syndrome, False 3 0;0;0 22.109 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA2 gene KCNA2 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 32 OMIM:616366;developmental and epileptic encephalopathy, 32 MONDO:0014607 25751627;28032718;25477152;29050392 False 3 100;0;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000177301 ENSG00000177301 HGNC:6220 KCNC3 gene KCNC3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 13 False 3 0;0;0 22.109 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCND3 gene KCND3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellarataxia19,607346 False 3 0;0;0 22.109 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNJ10 gene KCNJ10 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome False 3 0;0;0 22.109 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNN2 gene KCNN2 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability;seizures;movement disorder 33242881 False 3 100;0;0 22.109 False ENSG00000080709 ENSG00000080709 HGNC:6291 KIAA0556 gene KIAA0556 Expert Review Green;NHS GMS Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 26714646;27245168;31197031;31197031;36580738;40725402;40428346;32164589;30982090 False 3 100;0;0 22.109 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0586 gene KIAA0586 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23;Joubert syndrome;Short-rib thoracic dysplasia 14 with polydactyly;Short-rib dysplasia 14 with polydactyly 26096313 False 3 100;0;0 22.109 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert Review Green;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XV 617127 26643951 False 3 50;0;50 22.109 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIF1A gene KIF1A NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 30, autosomal dominant, OMIM:610357;Spastic paraplegia 30, autosomal recessive, OMIM:610357;NESCAV syndrome, OMIM:614255 22258533;28332297;25265257;26125038;26354034;31805580;32096284;32737135;32746806;34121983;https://doi.org/10.1016/j.ejpn.2017.04.926 False 3 100;0;0 22.109 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF1C gene KIF1C Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, OMIM:611302 24319291;24482476;24808017;29544888;31413903 False 3 0;0;0 22.109 False ENSG00000129250 ENSG00000129250 HGNC:6317 KIF7 gene KIF7 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990 21633164 False 3 100;0;0 22.109 False ENSG00000166813 ENSG00000166813 HGNC:30497 LAMA1 gene LAMA1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome OMIM:615960;ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 25105227 False 3 100;0;0 22.109 False ENSG00000101680 ENSG00000101680 HGNC:6481 LAMA1 gene LAMA1 NHS GMS;Expert Review Green;Expert Review Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome OMIM:615960;ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 25105227;34423300 False 3 100;0;0 22.109 False ENSG00000101680 ENSG00000101680 HGNC:6481 LARGE1 gene LARGE1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, alpha-dystroglycan related;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 17436019, 24709677 False 3 0;0;0 22.109 False ENSG00000133424 ENSG00000133424 HGNC:6511 LARGE1 gene LARGE1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 27421908 False 3 100;0;0 22.109 False ENSG00000133424 ENSG00000133424 HGNC:6511 LARS2 gene LARS2 Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300 29205794;32423379;30737337 False 3 100;0;0 22.109 False ENSG00000011376 ENSG00000011376 HGNC:17095 LETM1 gene LETM1 NHS GMS;Expert Review Green;Expert Review Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 22.109 False ENSG00000168924 ENSG00000168924 HGNC:6556 LFNG gene LFNG NHS GMS;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813;O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 16385447;29459493;30196550;30531807;33728697;34645488;37038048;38565611 False 3 67;0;33 22.109 False ENSG00000106003 ENSG00000106003 HGNC:6560 MAG gene MAG Expert Review Green;NHS GMS;Literature;London North GLH;Yorkshire and North East GLH Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 75, autosomal recessive, OMIM:616680 24482476;26179919;31402626;32629324;32340215 False 3 60;40;0 22.109 False ENSG00000105695 ENSG00000105695 HGNC:6783 MAGT1 gene MAGT1 NHS GMS;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853;IAP-CDG (Disorders of protein N-glycosylation) 27604308;27393411;31036665;31714901 False 3 75;0;25 22.109 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAN1B1 gene MAN1B1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 15 614202; MAN1B1-CDG (Disorders of protein N-glycosylation) 24348268 False 3 100;0;0 22.109 False ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B2 gene MAN2B2 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140 31775018;35637269;38622837 False 3 100;0;0 22.109 False ENSG00000013288 ENSG00000013288 HGNC:29623 MAPK8IP3 gene MAPK8IP3 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 30612693;30945334 False 3 67;33;0 22.109 False ENSG00000138834 ENSG00000138834 HGNC:6884 MARS2 gene MARS2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive PubMed: 22448145 False 3 0;0;0 22.109 False ENSG00000247626 ENSG00000247626 HGNC:25133 MFSD8 gene MFSD8 Expert Review Green;London North GLH;NHS GMS Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 OMIM:610951;neuronal ceroid lipofuscinosis 7 MONDO:0012588 False 3 100;0;0 22.109 False ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIa 212066; N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation) 19419693 False 3 100;0;0 22.109 False ENSG00000168282 ENSG00000168282 HGNC:7045 MINPP1 gene MINPP1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 33257696;33168985 False 3 100;0;0 22.109 False ENSG00000107789 ENSG00000107789 HGNC:7102 MKS1 gene MKS1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal occipital encephalocele;Joubert syndrome;Bardet-Biedl syndrome;Joubert syndrome 28;249000;polydactyly;polycystic kidneys;Meckel-Gruber syndrome;Meckel syndrome;renal fibrosis 26490104;17437276;18327255;24886560;16415886 False 3 67;0;33 22.109 False Other - please provide details in the comments ENSG00000011143 ENSG00000011143 HGNC:7121 MMACHC gene MMACHC Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia and hypogonadism;Methylmalonic aciduria and homocystinuria, cblC type, 277400 26283149 False 3 0;0;0 22.109 False ENSG00000132763 ENSG00000132763 HGNC:24525 MOGS gene MOGS Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb 606056;MOGS-CDG (Disorders of protein N-glycosylation) 4716661;24716661;20301507;26805780 False 3 100;0;0 22.109 False ENSG00000115275 ENSG00000115275 HGNC:24862 MORC2 gene MORC2 Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688;Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090 28402445;27794525 False 3 100;0;0 22.109 False ENSG00000133422 ENSG00000133422 HGNC:23573 MPDU1 gene MPDU1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, OMIM:609180;Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 11733556 False 3 100;0;0 22.109 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257;Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 3 100;0;0 22.109 False ENSG00000178802 ENSG00000178802 HGNC:7216 MRE11 gene MRE11 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder;Ataxia-Telangiectasia-Like Disorder False 3 0;0;0 22.109 False ENSG00000020922 ENSG00000020922 HGNC:7230 MSTO1 gene MSTO1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia OMIM:617675;mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 28554942;28544275;31604776;31463572;31130378;30684668;29339779;37431817 False 3 100;0;0 22.109 False ENSG00000125459 ENSG00000125459 HGNC:29678 MT-ATP6 gene MT-ATP6 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MITOCHONDRIAL Neuropathy, Ataxia, and Retinitis Pigmentosa False 3 0;0;0 22.109 False ENSG00000198899 ENSG00000198899 HGNC:7414 MTCL1 gene MTCL1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal slowly progressive cerebellar ataxia;mild intellectual disability;seizures;episodic pain;spinocerebellar ataxia 30548255;28283581;32961396 False 3 100;0;0 22.109 False ENSG00000168502 ENSG00000168502 HGNC:29121 MTFMT gene MTFMT NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 26060307;24461907;21907147 False 3 100;0;0 22.109 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTTP gene MTTP Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100 False 3 0;0;0 22.109 False ENSG00000138823 ENSG00000138823 HGNC:7467 MVK gene MVK NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, OMIM:610377 12563048;10401001;28095071;24896178;26503795 False 3 100;0;0 22.109 False ENSG00000110921 ENSG00000110921 HGNC:7530 NAXE gene NAXE NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 27616477;27122014;27290639;30022751;31758406;31745726;39455596 False 3 100;0;0 22.109 False ENSG00000163382 ENSG00000163382 HGNC:18453 NEU1 gene NEU1 Expert Review Green;NHS GMS Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, OMIM:256550;Sialidosis, type II, OMIM:256550;Ataxia;Myoclonus 10944856;11063730;32752208;31371146;30023283 False 3 100;0;0 22.109 False ENSG00000204386 ENSG00000204386 HGNC:7758 NFASC gene NFASC NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356;neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698 30850329;31608123;31501903 False 3 100;0;0 22.109 False ENSG00000163531 ENSG00000163531 HGNC:29866 NGLY1 gene NGLY1 Expert Review Green;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 615273 False 3 50;0;50 22.109 False ENSG00000151092 ENSG00000151092 HGNC:17646 NHLRC1 gene NHLRC1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 12958597;15781812 False 3 0;0;0 22.109 False ENSG00000187566 ENSG00000187566 HGNC:21576 NKX2-1 gene NKX2-1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 10931427;27066577;26839702;26103969 False 3 100;0;0 22.109 False ENSG00000136352 ENSG00000136352 HGNC:11825 NKX6-2 gene NKX6-2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560 15601927;28575651 False 3 0;0;0 22.109 False ENSG00000148826 ENSG00000148826 HGNC:19321 NPC1 gene NPC1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease types C1 and D (#257220) False 3 0;0;0 22.109 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C2, 607625 False 3 0;0;0 22.109 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP1 gene NPHP1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4;Senior-Loken syndrome;256100 Senior-Loken syndrome-1, 266900;609583 Nephronophthisis 1, juvenile;Nephronophthisis 15138899;22982934;15689444 False 3 100;0;0 22.109 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia;Senior-Loken syndrome;Nephronophthisis 3, 604387;Meckel syndrome 7, 267010;Renal-hepatic-pancreatic dysplasia 1, 208540;Nephronophthisis False 3 0;0;0 22.109 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPTX1 gene NPTX1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 50, OMIM:620158 34788392;35285082;35288776;35560436 False 3 100;0;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171246 ENSG00000171246 HGNC:7952 NUS1 gene NUS1 Expert Review Green;NHS GMS;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hereditary ataxia, MONDO:0100309 31656175;32485575;32959737;33731878;38291835 False 3 100;0;0 22.109 False ENSG00000153989 ENSG00000153989 HGNC:21042 OFD1 gene OFD1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Joubert syndrome 10;X-linked Joubert syndrome;Orofaciodigital syndrome I 19800048;22353940 False 3 100;0;0 22.109 False ENSG00000046651 ENSG00000046651 HGNC:2567 OGDHL gene OGDHL NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 28017472;34800363 False 3 100;0;0 22.109 False ENSG00000197444 ENSG00000197444 HGNC:25590 OPA1 gene OPA1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 1, OMIM:165500;Optic atrophy plus syndrome, OMIM:125250;Behr syndrome, OMIM:210000 28494813;27150940;24970096;11017079;11017080;17722006;25012220 False 3 100;0;0 22.109 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Costeff syndrome;3-methylglutaconic aciduria, type III, 258501 25201222;25657044;11668429;20301646;24944951 False 3 0;0;0 22.109 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 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 False 3 0;0;0 22.109 False ENSG00000079482 ENSG00000079482 HGNC:8148 PAX6 gene PAX6 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Aniridia, Cerebellar Ataxia, And Mental Retardation False 3 0;0;0 22.109 False ENSG00000007372 ENSG00000007372 HGNC:8620 PDE1B gene PDE1B Expert Review Green;NHS GMS;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal movement disorder, MONDO:0005395 40492975 False 3 100;0;0 22.109 False ENSG00000123360 ENSG00000123360 HGNC:8775 PDYN gene PDYN Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 23 False 3 0;0;0 22.109 False ENSG00000101327 ENSG00000101327 HGNC:8820 PEX16 gene PEX16 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome (614876);Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis False 3 0;0;0 22.109 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX6 gene PEX6 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4B, OMIM:614863 25655951;29220678 False 3 100;0;0 22.109 False Other ENSG00000124587 ENSG00000124587 HGNC:8859 PGAP2 gene PGAP2 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 23561846;23561847 False 3 100;0;0 22.109 False ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Hyperphosphatasia with mental retardation syndrome 4 615716" 24439110 False 3 100;0;0 22.109 False ENSG00000161395 ENSG00000161395 HGNC:23719 PGM1 gene PGM1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 615273 27206562 False 3 100;0;0 22.109 False ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 Expert Review Green;Emory Genetics Laboratory;UKGTN;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 23 615816" 24698316 False 3 100;0;0 22.109 False ENSG00000013375 ENSG00000013375 HGNC:8907 PI4KA gene PI4KA NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 25855803;34415322;34415310 False 3 100;0;0 22.109 False ENSG00000241973 ENSG00000241973 HGNC:8983 PIBF1 gene PIBF1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 33, OMIM:617767;ataxia;vermis hypoplasia;developmental delay;thick superior cerebellar peduncles;superior cerebellar dysplasia 26167768;29695797;30858804 False 3 100;0;0 22.109 False ENSG00000083535 ENSG00000083535 HGNC:23352 PIGA gene PIGA Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868;PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 25885527 False 3 100;0;0 22.109 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGL gene PIGL Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal CHIME syndrome 280000; PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 22444671 False 3 100;0;0 22.109 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIGM gene PIGM NHS GMS;Expert Review Green;Radboud University Medical Center, Nijmegen;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, OMIM:610293 27604308;16767100;25293775;17442906;31445883 False 3 100;0;0 22.109 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGN gene PIGN Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080" 21493957;26419326 False 3 100;0;0 22.109 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 2 614749;(Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 22683086;27177984;24129430 False 3 100;0;0 22.109 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGS gene PIGS Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 18 618143 30269814 False 3 100;0;0 22.109 False ENSG00000087111 ENSG00000087111 HGNC:14937 PIGT gene PIGT Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398" 23636107;28327575 False 3 0;0;100 22.109 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGV gene PIGV Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1 239300;(Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 20802478;24129430 False 3 100;0;0 22.109 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIGW gene PIGW NHS GMS;Expert Review Green;Emory Genetics Laboratory;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025;hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457 24367057;27626616;30813920;32198969 False 3 75;0;25 22.109 False ENSG00000184886 ENSG00000277161 HGNC:23213 PITRM1 gene PITRM1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405 26697887;29764912;29383861 False 3 100;0;0 22.109 False ENSG00000107959 ENSG00000107959 HGNC:17663 PLA2G6 gene PLA2G6 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1 (#256600);Parkinson disease 14 (#612953);Neurodegeneration with brain iron accumulation 2B (#610217) False 3 0;0;0 22.109 False ENSG00000184381 ENSG00000184381 HGNC:9039 PMM2 gene PMM2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 3 100;0;0 22.109 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMM2 gene PMM2 Eligibility statement prior genetic testing;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065; Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation) 11058895;11409861;11875054 False 3 100;0;0 22.109 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCA gene PMPCA Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 2 213200 AR;Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. PubMed: 10528257, 25808372 False 3 0;0;0 22.109 False ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 29576218 False 3 100;0;0 22.109 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNKP gene PNKP Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia with oculomotor apraxia 4 (#616267) False 3 0;0;0 22.109 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA6 gene PNPLA6 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 False 3 0;0;0 22.109 False ENSG00000032444 ENSG00000032444 HGNC:16268 PNPT1 gene PNPT1 Expert Review Green;NHS GMS;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 25, OMIM:608703 14705117;35411967;37935417 False 3 100;0;0 22.109 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) False 3 0;0;0 22.109 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3A gene POLR3A Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Autosomal Recessive Ataxia 25655951;21855841 False 3 0;0;0 22.109 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381;POLR3B-related neurodevelopmental disorder;Ataxia, spasticity, and demyelinating neuropathy 22036171;18851904;22036172;24190003;25339210;26204956;27159321;32319736;33417887 False 3 100;0;0 22.109 False ENSG00000013503 ENSG00000013503 HGNC:30348 POMGNT1 gene POMGNT1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 27421908 False 3 100;0;0 22.109 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT1 gene POMGNT1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, alpha-dystroglycan related;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 11709191, 15236414 False 3 0;0;0 22.109 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;UKGTN;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830" 27066570 False 3 100;0;0 22.109 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMGNT2 gene POMGNT2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type 22958903 False 3 0;0;0 22.109 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 23519211;24556084;24925318;29910097 False 3 100;0;0 22.109 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 12369018 False 3 0;0;0 22.109 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT1 gene POMT1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 27421908 False 3 100;0;0 22.109 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 15894594 False 3 0;0;0 22.109 False ENSG00000009830 ENSG00000009830 HGNC:19743 POMT2 gene POMT2 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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) 27421908 False 3 100;0;0 22.109 False ENSG00000009830 ENSG00000009830 HGNC:19743 POU4F1 gene POU4F1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, OMIM:619352 33783914;8876243 False 3 100;0;0 22.109 False ENSG00000152192 ENSG00000152192 HGNC:9218 PRDM13 gene PRDM13 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 17, OMIM:619909;Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761 35390279;34730112 False 3 100;0;0 22.109 False ENSG00000112238 ENSG00000112238 HGNC:13998 PRDX3 gene PRDX3 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 32, OMIM:619862 33889951;35766882 False 3 100;0;0 22.109 False ENSG00000165672 ENSG00000165672 HGNC:9354 PRKCG gene PRKCG Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 14 False 3 0;0;0 22.109 False ENSG00000126583 ENSG00000126583 HGNC:9402 PRNP gene PRNP Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Creutzfeldt-Jakob disease;Autosomal Dominant Ataxia;Gerstmann-Straussler disease;Huntington disease-like 1;Insomnia, fatal familial False 3 0;0;0 22.109 False ENSG00000171867 ENSG00000171867 HGNC:9449 PRRT2 gene PRRT2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066;Episodic kinesigenic dyskinesia 1, 128200;Seizures, benign familial infantile, 2, 605751 False 3 0;0;0 22.109 False ENSG00000167371 ENSG00000167371 HGNC:30500 PTF1A gene PTF1A Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pancreatic and cerebellar agenesis, 609069 15543146 False 3 0;0;0 22.109 False ENSG00000168267 ENSG00000168267 HGNC:23734 PTRH2 gene PTRH2 Expert Review Green;NHS GMS;Other Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263;neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 25574476;25558065;27129381;28328138;31057140 False 3 100;0;0 22.109 False ENSG00000141378 ENSG00000141378 HGNC:24265 RAB3A gene RAB3A Expert Review Green;NHS GMS;Research Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RAB3A associated cerebellar ataxia;pyramidal features;neurodevelopmental delay 36928819;40166812 False 3 100;0;0 22.109 False ENSG00000105649 ENSG00000105649 HGNC:9777 RARS2 gene RARS2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, OMIM:611523 PMID: 25809939;PMID: 17847012;PMID: 20635367 False 3 0;0;0 22.109 False ENSG00000146282 ENSG00000146282 HGNC:21406 RELN gene RELN Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 2, 257320 10973257 False 3 0;0;0 22.109 False ENSG00000189056 ENSG00000189056 HGNC:9957 RFT1 gene RFT1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) 23111317 False 3 100;0;0 22.109 False ENSG00000163933 ENSG00000163933 HGNC:30220 RNF170 gene RNF170 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ataxia, sensory, 1, autosomal dominant False 3 0;0;0 22.109 False ENSG00000120925 ENSG00000120925 HGNC:25358 RNF216 gene RNF216 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 False 3 0;0;0 22.109 False ENSG00000011275 ENSG00000011275 HGNC:21698 RNF220 gene RNF220 NHS GMS;Expert Review Green;Other;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, HP:0001251 33964137;10881263 False 3 100;0;0 22.109 False ENSG00000187147 ENSG00000187147 HGNC:25552 ROBO3 gene ROBO3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1 16525029;15105459 False 3 0;0;0 22.109 False ENSG00000154134 ENSG00000154134 HGNC:13433 RORA gene RORA NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060;intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745 29656859 False 3 100;0;0 22.109 False ENSG00000069667 ENSG00000069667 HGNC:10258 RPGRIP1L gene RPGRIP1L Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7;Meckel syndrome 5;Joubert syndrome;Meckel syndrome;Meckel-Gruber syndrome 17558409;17558407;19574260 False 3 100;0;0 22.109 False ENSG00000103494 ENSG00000103494 HGNC:29168 SACS gene SACS Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type False 3 0;0;0 22.109 False ENSG00000151835 ENSG00000151835 HGNC:10519 SCLT1 gene SCLT1 Expert Review Green;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36);No OMIM phenotype 15797711 False 3 50;0;50 22.109 False ENSG00000151466 ENSG00000151466 HGNC:26406 SCN1A gene SCN1A NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dravet syndrome OMIM:607208;developmental and epileptic encephalopathy, 6 MONDO:0100079 11359211;12566275;17000989;18680191;21555645;21753172;27264139;27817982;28732259 False 3 100;0;0 22.109 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN2A gene SCN2A NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 9, MIM# 618924, MONDO:0030064;Developmental and epileptic encephalopathy 11, MIM# 613721, MONDO:0013388 20956790;26291284;26645390;27159988;27328862;28065826;30165711;30741786;30813219;30928199;32893078;35219921 False 3 100;0;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000136531 ENSG00000136531 HGNC:10588 SCN8A gene SCN8A NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cognitive impairment with or without cerebellar ataxia, OMIM:614306;Developmental and epileptic encephalopathy 13, OMIM:614558 16236810;22365152;25725044;28702509;31675620;31887642;31904124 False 3 100;0;0 22.109 False ENSG00000196876 ENSG00000196876 HGNC:10596 SCYL1 gene SCYL1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719;acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744 29419818;17571074;26581903;30531813 False 3 100;0;0 22.109 False ENSG00000142186 ENSG00000142186 HGNC:14372 SEC23B gene SEC23B NHS GMS;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II, OMIM:224100;COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) 22208203;35163229 False 3 100;0;0 22.109 False ENSG00000101310 ENSG00000101310 HGNC:10702 SEPSECS gene SEPSECS Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia;Pontocerebellar hypoplasia type 2D (613811);Pontocerebellar hypoplasia type 2D, 613811;Pontocerebellar Hypoplasia type 2D PMID: 12920088;PMID: 20920667 False 3 0;0;0 22.109 False ENSG00000109618 ENSG00000109618 HGNC:30605 SETX gene SETX Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002 False 3 0;0;0 22.109 False ENSG00000107290 ENSG00000107290 HGNC:445 SIL1 gene SIL1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 False 3 0;0;0 22.109 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC17A5 gene SLC17A5 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Salla disease, OMIM:604369;Sialic acid storage disorder, infantile, OMIM:269920 10581036;10069709;10947946;11992753;26171070 False 3 100;0;0 22.109 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC1A3 gene SLC1A3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 6, False 3 0;0;0 22.109 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC25A46 gene SLC25A46 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, MONDO:0000437;Pontocerebellar hypoplasia, type 1E, MIM# 619303, MONDO:0030260;Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 30178502;26168012;27543974;27430653;27390132;28934388;28558379 False 3 100;0;0 22.109 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC2A1 gene SLC2A1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 False 3 0;0;0 22.109 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC35A1 gene SLC35A1 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, 603585;CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 15576474;23873973;28856833;30115659 False 3 100;0;0 22.109 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A2 gene SLC35A2 NHS GMS;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Other Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital disorder of glycosylation, type IIm OMIM:300896;Developmental and epileptic encephalopathy-22 OMIM:300896;SLC35A2-CDG MONDO:0010478 23561849;24115232;27743886;25778940;30817854 False 3 100;0;0 22.109 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc 266265; GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 11326280;12476046 False 3 100;0;0 22.109 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Schneckenbecken dysplasia OMIM:269250;schneckenbecken dysplasia MONDO:0010013 17952091;19508970 False 3 100;0;0 22.109 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital disorder of glycosylation, type IIw, OMIM:619525 32884905;33728255;33964207 False 3 100;0;0 22.109 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A8 gene SLC39A8 Expert Review Green;Radboud University Medical Center, Nijmegen;Other Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn 616721 26637979;26637978 False 3 100;0;0 22.109 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC44A1 gene SLC44A1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 31855247 False 3 100;0;0 22.109 False ENSG00000070214 ENSG00000070214 HGNC:18798 SLC52A2 gene SLC52A2 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867;Cerebellar ataxia, MONDO:0000437 22740598;22864630;23243084;24253200;30343981;30377535;31868069;32909658;35608644;36186484 False 3 100;0;0 22.109 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC9A1 gene SLC9A1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Lichtenstein-Knorr syndrome OMIM:616291;Lichtenstein-Knorr syndrome MONDO:0014572 25205112;30018422;25760855 False 3 67;33;0 22.109 False ENSG00000090020 ENSG00000090020 HGNC:11071 SLC9A6 gene SLC9A6 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked syndromic, Christianson type, 300243 False 3 0;0;0 22.109 False ENSG00000198689 ENSG00000198689 HGNC:11079 SNAP25 gene SNAP25 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Myasthenic syndrome, congenital, 18, OMIM:616330;cerebellar ataxia, MONDO:0000437;seizures, HP:0001250 29491473;25381298;17283335 False 3 100;0;0 22.109 False ENSG00000132639 ENSG00000132639 HGNC:11132 SNX14 gene SNX14 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia (#616354);Spinocerebellar ataxia, autosomal recessive 20, 616354 25439728 False 3 0;0;0 22.109 False ENSG00000135317 ENSG00000135317 HGNC:14977 SPG7 gene SPG7 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 25681447;32893728;33774748;32161564;31068484;23065789;9635427;16534102;17646629;18200586;20186691;22571692;34405107;39978794 False 3 75;25;0 22.109 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPR gene SPR NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 False 3 100;0;0 22.109 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTAN1 gene SPTAN1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 5, OMIM:613477;Developmental delay with or without epilepsy, OMIM:620540;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538 29050398;30548380;33790315;34590414;35150594;36331550;36408834 False 3 100;0;0 22.109 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN2 gene SPTBN2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 5, OMIM:600224;Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 False 3 0;0;0 22.109 False ENSG00000173898 ENSG00000173898 HGNC:11276 SQSTM1 gene SQSTM1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145 27545679;33135846 False 3 100;0;0 22.109 False ENSG00000161011 ENSG00000161011 HGNC:11280 SRD5A3 gene SRD5A3 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Disorder of Glycosylation, Type Iq OMIM:612379;Kahrizi Syndrome OMIM:612713 27480077;32424323 False 3 100;0;0 22.109 False ENSG00000128039 ENSG00000128039 HGNC:25812 SRD5A3 gene SRD5A3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq, 612379;Kahrizi syndrome, 612713 False 3 0;0;0 22.109 False ENSG00000128039 ENSG00000128039 HGNC:25812 SSR4 gene SSR4 Expert Review Green;Other Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Iy 300934 26264460 False 3 100;0;0 22.109 False ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL3 gene ST3GAL3 NHS GMS;Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 27604308;21907012;23252400;31584066;17120046;25529582 False 3 100;0;0 22.109 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome 609056; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 15502825;24026681 False 3 100;0;0 22.109 False ENSG00000115525 ENSG00000115525 HGNC:10872 STT3A gene STT3A NHS GMS;Expert Review Green;UKGTN;Other Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714;Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596 23842455;30701557;28424003;34653363 False 3 100;0;0 22.109 False ENSG00000134910 ENSG00000134910 HGNC:6172 STUB1 gene STUB1 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 24312598;25592071;30381368;32713943;33564152;35493319;34906452 False 3 0;0;0 22.109 False ENSG00000103266 ENSG00000103266 HGNC:11427 SUFU gene SUFU NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 32, OMIM:617757 21289193;28965847;33024317;34675124 False 3 75;25;0 22.109 False ENSG00000107882 ENSG00000107882 HGNC:16466 SUFU gene SUFU NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 32, OMIM:617757 21289193;28965847;33024317;34675124 False 3 75;25;0 22.109 False ENSG00000107882 ENSG00000107882 HGNC:16466 SYNE1 gene SYNE1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743;Autosomal recessive ataxia, Beauce type, MONDO:0012549 False 3 0;0;0 22.109 False ENSG00000131018 ENSG00000131018 HGNC:17089 TANGO2 gene TANGO2 Expert Review Green;NHS GMS;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 30245509;31276219;32527145;36473599 False 3 67;33;0 22.109 False ENSG00000183597 ENSG00000183597 HGNC:25439 TBC1D23 gene TBC1D23 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 11, OMIM:617695 28823707;28823706;32360255 False 3 100;0;0 22.109 False ENSG00000036054 ENSG00000036054 HGNC:25622 TCTN1 gene TCTN1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20301500;22693042;26489806;21725307;26477546;28631893 False 3 100;0;0 22.109 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 24;Joubert syndrome, Meckel-Gruber syndrome 25118024;21565611 False 3 100;0;0 22.109 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Orofaciodigital syndrome IV;Joubert syndrome 18;Meckel-Gruber;Mohr-Majewski syndrome 25118024;22883145 False 3 100;0;0 22.109 False ENSG00000119977 ENSG00000119977 HGNC:24519 TDP2 gene TDP2 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 23, OMIM:616949 24658003;30109272;31410782 False 3 100;0;0 22.109 False ENSG00000111802 ENSG00000111802 HGNC:17768 TECPR2 gene TECPR2 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031 33847017 False 3 100;0;0 22.109 False ENSG00000196663 ENSG00000196663 HGNC:19957 THG1L gene THG1L NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800, MONDO:0032923 27307223;30214071;31168944;33682303;37670026 False 3 60;40;0 22.109 False ENSG00000113272 ENSG00000113272 HGNC:26053 TINF2 gene TINF2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 3 613990 18979121;18252230 False 3 0;0;0 22.109 False ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM107 gene TMEM107 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 13 617562;?Joubert syndrome 29 617562;Orofaciodigital syndrome XVI 617563 26518474;26123494;22698544;26595381 False 3 0;0;0 22.109 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome with oculorenal defect;Joubert syndrome 16 22282472 False 3 100;0;0 22.109 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM165 gene TMEM165 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk 614727 27401145;22683087 False 3 100;0;0 22.109 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM199 gene TMEM199 NHS GMS;Expert Review Green;Radboud University Medical Center, Nijmegen;Other Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIp OMIM:616829;TMEM199-CDG MONDO:0014790 26833330;29321044 False 3 100;0;0 22.109 False ENSG00000244045 ENSG00000244045 HGNC:18085 TMEM216 gene TMEM216 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome: Meckel-Gruber syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome;Joubert syndrome 2 22282472;20036350;20512146 False 3 100;0;0 22.109 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, OMIM:619562 25161209;33791682;35137054 False 3 100;0;0 22.109 False ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 20;Joubert syndrome with oculorenal defect;Joubert syndrome 20, 614970;Meckel syndrome 11, 615397 False 3 0;0;0 22.109 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome with oculorenal defect;Joubert syndrome 14 22152675;20301500 False 3 100;0;0 22.109 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM240 gene TMEM240 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 21, 607454 False 3 0;0;0 22.109 False ENSG00000205090 ENSG00000205090 HGNC:25186 TMEM5 gene TMEM5 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 23217329 False 3 0;0;0 22.109 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM5 gene TMEM5 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041" 27212206 False 3 100;0;0 22.109 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM67 gene TMEM67 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 PMID: 16415887;PMID: 17160906;PMID: 19058225;PMID: 19508969;PMID: 20607301;PMID: 18327255 False 3 67;0;33 22.109 False ENSG00000164953 ENSG00000164953 HGNC:28396 TOE1 gene TOE1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 7 614969 28092684 False 3 0;0;0 22.109 False ENSG00000132773 ENSG00000132773 HGNC:15954 TOGARAM1 gene TOGARAM1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 37, OMIM:619185;Joubert syndrome 37, MONDO:0030933 32747439;32453716 False 3 100;0;0 22.109 False ENSG00000198718 ENSG00000198718 HGNC:19959 TPP1 gene TPP1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia 7 (#607998);Neuronal ceroid lipfuscinosis 7 (204500) False 3 0;0;0 22.109 False ENSG00000166340 ENSG00000166340 HGNC:2073 TSEN2 gene TSEN2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia;Pontocerebellar hypoplasia type 2B,612389;Pontocerebellar Hypoplasia type 2B;Pontocerebellar hypoplasia 2B (612389) PMID: 18711368;PMID: 23562994;PMID: 20952379 False 3 0;0;0 22.109 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2C, OMIM:612390;pontocerebellar hypoplasia type 2C, MONDO:0012891 20952379;27370523;32476018;37544645 False 3 0;100;0 22.109 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN54 gene TSEN54 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 5, OMIM:610204;Pontocerebellar hypoplasia type 2A, OMIM:277470;Pontocerebellar hypoplasia type 4, OMIM:225753 16470708;18711368;20956791;20952379;21368912 False 3 0;0;0 22.109 False ENSG00000182173 ENSG00000182173 HGNC:27561 TTBK2 gene TTBK2 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 11 False 3 0;0;0 22.109 False ENSG00000128881 ENSG00000128881 HGNC:19141 TTC19 gene TTC19 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2, 615157 False 3 0;0;0 22.109 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTPA gene TTPA Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency;Ataxia with Vitamin E Deficiency False 3 0;0;0 22.109 False ENSG00000137561 ENSG00000137561 HGNC:12404 TUBA1A gene TUBA1A Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3 6,1603 17218254, 17584854 False 3 0;0;0 22.109 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB2B gene TUBB2B Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 19465910 False 3 0;0;0 22.109 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 1 614039 20829227 False 3 0;0;0 22.109 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, 612438;Dystonia 4, torsion, autosomal dominant, 128101 25497598 False 3 0;0;0 22.109 False Other - please provide details in the comments ENSG00000104833 ENSG00000104833 HGNC:20774 TUSC3 gene TUSC3 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 18452889;18455129;21739581;26864433;27148795 False 3 100;0;0 22.109 False ENSG00000104723 ENSG00000104723 HGNC:30242 TWNK gene TWNK Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR);Perrault syndrome 5, OMIM:616138 (AR);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD) False 3 0;0;0 22.109 False ENSG00000107815 ENSG00000107815 HGNC:1160 TXNDC15 gene TXNDC15 Expert Review Green;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, OMIM:619879 27894351 False 3 0;100;0 22.109 False ENSG00000113621 ENSG00000113621 HGNC:20652 UBTF gene UBTF NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672 28777933;29300972;30517966;31931739 False 3 100;0;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000108312 ENSG00000108312 HGNC:12511 UCHL1 gene UCHL1 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 79B, autosomal recessive, OMIM:615491;early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209;Spastic paraplegia 79A, autosomal dominant, OMIM:620221 23359680;28007905;29735986;32656641;11555633;33159930;35986737 False 3 100;0;0 22.109 False ENSG00000154277 ENSG00000154277 HGNC:12513 UGGT1 gene UGGT1 NHS GMS;Expert Review Green;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation, MONDO:0015286 40267907 False 3 100;0;0 22.109 False ENSG00000136731 ENSG00000136731 HGNC:15663 VLDLR gene VLDLR Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050;Cerebellar Hypoplasia 18364738;16080122 False 3 0;0;0 22.109 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS13B gene VPS13B Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, 216550;COHEN SYNDROME False 3 100;0;0 22.109 False ENSG00000132549 ENSG00000132549 HGNC:2183 VPS13D gene VPS13D Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317 False 3 0;0;0 22.109 False ENSG00000048707 ENSG00000048707 HGNC:23595 VPS41 gene VPS41 Expert Review Green;NHS GMS Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Generalised Neurodevelopmental disorder;Ataxia;Dystonia 32808683;33764426;33851776 False 3 100;0;0 22.109 False ENSG00000006715 ENSG00000006715 HGNC:12713 VRK1 gene VRK1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, OMIM:607596 PMID: 21937992;PMID: 19646678;24126608 False 3 0;0;0 22.109 False ENSG00000100749 ENSG00000100749 HGNC:12718 WDR73 gene WDR73 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature;Galloway-Mowat syndrome 1, 251300 False 3 0;0;0 22.109 False ENSG00000177082 ENSG00000177082 HGNC:25928 WDR81 gene WDR81 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 21885617 False 3 0;0;0 22.109 False ENSG00000167716 ENSG00000167716 HGNC:26600 WFS1 gene WFS1 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 1, OMIM:222300 False 3 0;0;0 22.109 False ENSG00000109501 ENSG00000109501 HGNC:12762 WWOX gene WWOX Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia 12, 614322 False 3 0;0;0 22.109 False ENSG00000186153 ENSG00000186153 HGNC:12799 XRCC1 gene XRCC1 NHS GMS;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 28002403;29472272 False 3 100;0;0 22.109 False ENSG00000073050 ENSG00000073050 HGNC:12828 XYLT1 gene XYLT1 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Desbuquois dysplasia 2 615777" 23982343;24581741;22711505;30554721 False 3 100;0;0 22.109 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal "Spondyloocular syndrome 605822" 26027496;26987875 False 3 100;0;0 22.109 False ENSG00000015532 ENSG00000015532 HGNC:15517 ZSWIM6 gene ZSWIM6 Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromelic frontonasal dysostosis 603671 25105228 False 3 100;0;0 22.109 False Other - please provide details in the comments ENSG00000130449 ENSG00000130449 HGNC:29316 ABCA2 gene ABCA2 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 30237576;29302074;31047799 False 2 0;0;0 22.109 False ENSG00000107331 ENSG00000107331 HGNC:32 ARL3 gene ARL3 Expert Review Amber;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 35, OMIM:61816 30269812;16565502;33748123;31743939;26964041;30932721;34485303 False 2 100;0;0 22.109 False ENSG00000138175 ENSG00000138175 HGNC:694 ATG12 gene ATG12 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;Hypoplasia of the corpus callosum, HP:0002079;Cerebellar hypoplasia, HP:0001321 41895291 False 2 100;0;0 22.109 False ENSG00000145782 ENSG00000145782 HGNC:588 ATOH1 gene ATOH1 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal ?Deafness, autosomal dominant 89 , OMIM:620284;hearing loss, autosomal dominant 89, MONDO:0859528;pontocerebellar hypoplasia, MONDO:0020135 9367153;21146598;33111345;35518571;41592563 False 2 100;0;0 22.109 False ENSG00000172238 ENSG00000172238 HGNC:797 ATP6V0C gene ATP6V0C Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown progressive ataxia and cognitive decline 41349538 False 2 0;100;0 22.109 False ENSG00000185883 ENSG00000185883 HGNC:855 CAPRIN1 gene CAPRIN1 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 36136249 False 2 50;50;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000135387 ENSG00000135387 HGNC:6743 CEP76 gene CEP76 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa, MONDO:0019200;Joubert syndrome, MONDO:0018772;Bardet-Biedl syndrome, MONDO:0015229 41105778 False 2 100;0;0 22.109 False ENSG00000101624 ENSG00000101624 HGNC:25727 CHP1 gene CHP1 Literature;Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM:618438 23904602;29379881;32787936 False 2 0;100;0 22.109 False ENSG00000187446 ENSG00000187446 HGNC:17433 CLPP gene CLPP Expert Review Amber;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3 OMIM:614129;Perrault syndrome 3 MONDO:0013588 25254289;23541340 False 2 50;50;0 22.109 False ENSG00000125656 ENSG00000125656 HGNC:2084 COASY gene COASY Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 11980892;25778941;24360804;27021474;28489334;30089828;36495139 False 2 0;0;0 22.109 False ENSG00000068120 ENSG00000068120 HGNC:29932 COG3 gene COG3 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 22.109 False ENSG00000136152 ENSG00000136152 HGNC:18619 COG5 gene COG5 Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi 19690088;28960046 False 2 0;0;0 22.109 False ENSG00000164597 ENSG00000164597 HGNC:14857 COQ5 gene COQ5 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028;mitochondrial disease, MONDO:0044970 29044765;36266294;37599337;41199775 False 2 0;100;0 22.109 False ENSG00000110871 ENSG00000110871 HGNC:28722 DAG1 gene DAG1 Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Unknown congenital muscular dystrophies False 2 0;0;0 22.109 False ENSG00000173402 ENSG00000173402 HGNC:2666 DCC gene DCC Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542 28250456 False 2 0;0;0 22.109 False ENSG00000187323 ENSG00000187323 HGNC:2701 EEF2 gene EEF2 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 26 OMIM:609306 23001565;33355653 False 2 0;100;0 22.109 False ENSG00000167658 ENSG00000167658 HGNC:3214 EN1 gene EN1 Literature;Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ENDOVE syndrome, limb-only type, MIM# 619217;ENDOVE syndrome, limb-brain type, MIM# 619218 33568816 False 2 100;0;0 22.109 False ENSG00000163064 ENSG00000163064 HGNC:3342 GLS gene GLS Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 30970188 False 2 100;0;0 22.109 False ENSG00000115419 ENSG00000115419 HGNC:4331 HARS gene HARS Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Multisystem ataxic syndrome;Intellectual disability 32333447 False 2 0;100;0 22.109 False ENSG00000170445 ENSG00000170445 HGNC:4816 JAM2 gene JAM2 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824;basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938 31851307;32142645 False 2 100;0;0 22.109 False ENSG00000154721 ENSG00000154721 HGNC:14686 LIG3 gene LIG3 Literature;Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal gut dysmotility;spasticity;ataxia;repetitive behaviours;neurogenic bladder;macular degeneration;leukoencephalopathy;cerebellar atrophy;mitochondrial DNA depletion 33855352 False 2 50;50;0 22.109 False ENSG00000005156 ENSG00000005156 HGNC:6600 LNPK gene LNPK Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090 30032983;35599435 False 2 0;100;0 22.109 False ENSG00000144320 ENSG00000144320 HGNC:21610 LRRC45 gene LRRC45 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308;Abnormal brain morphology, HP:0012443;neurodevelopmental disorder, MONDO:0700092 34716235;39638757 False 2 100;0;0 22.109 False ENSG00000169683 ENSG00000169683 HGNC:28302 LSM7 gene LSM7 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, MONDO:0019046 35047835;39420558 False 2 0;0;100 22.109 False ENSG00000130332 ENSG00000130332 HGNC:20470 PHGDH gene PHGDH Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1, 256520 24836451 False 2 0;0;0 22.109 False ENSG00000092621 ENSG00000092621 HGNC:8923 POC1B gene POC1B Expert Review Amber;Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY;Joubert Syndrome;Senior-Loken Syndrome False 2 50;0;50 22.109 False ENSG00000139323 ENSG00000139323 HGNC:30836 POLR3K gene POLR3K Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 21, OMIM:619310 30584594;33659930 False 2 0;100;0 22.109 False ENSG00000161980 ENSG00000161980 HGNC:14121 PTPMT1 gene PTPMT1 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39279645 False 2 0;100;0 22.109 False ENSG00000110536 ENSG00000110536 HGNC:26965 RFXANK gene RFXANK Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal MHC class II deficiency, complementation group B, OMIM:209920;Progressive Ataxia and Neurologic Regression 33855173;23314770;28676232 False 2 0;100;0 22.109 False ENSG00000064490 ENSG00000064490 HGNC:9987 SMPD4 gene SMPD4 Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes False 2 0;0;0 22.109 False ENSG00000136699 ENSG00000136699 HGNC:32949 SNAPIN gene SNAPIN Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393 26539891;40930097 False 2 100;0;0 22.109 False ENSG00000143553 ENSG00000143553 HGNC:17145 SSR3 gene SSR3 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 30945312 False 2 0;100;0 22.109 False ENSG00000114850 ENSG00000114850 HGNC:11325 SVBP gene SVBP Expert Review Amber;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569;Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816 31363758;30607023 False 2 100;0;0 22.109 False ENSG00000177868 ENSG00000177868 HGNC:29204 TERT gene TERT Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 17785587;16247010 False 2 0;100;0 22.109 False ENSG00000164362 ENSG00000164362 HGNC:11730 TGM6 gene TGM6 Expert Review Amber;NHS GMS Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 35, OMIM:613908 32426513;30670339 False 2 0;50;50 22.109 False ENSG00000166948 ENSG00000166948 HGNC:16255 TMEM106B gene TMEM106B Expert Review Amber;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 16, OMIM:617964;Leukodystrophy, hypomyelinating, 16, MONDO:0054791 29186371;29444210;30643851;32595021 False 2 50;50;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106460 ENSG00000106460 HGNC:22407 TRAPPC11 gene TRAPPC11 Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356;autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880 False 2 0;67;33 22.109 False ENSG00000168538 ENSG00000168538 HGNC:25751 TSEN15 gene TSEN15 Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, OMIM:617026 27392077 False 2 0;0;0 22.109 False ENSG00000198860 ENSG00000198860 HGNC:16791 TUBA8 gene TUBA8 Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria with optic nerve hypoplasia, 613180 19896110, 27781032 False 2 0;0;0 22.109 False ENSG00000183785 ENSG00000183785 HGNC:12410 VAMP1 gene VAMP1 Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic ataxia 1, autosomal dominant, 108600 False 2 0;0;0 22.109 False ENSG00000139190 ENSG00000139190 HGNC:12642 VPS53 gene VPS53 Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia;Pontocerebellar Hypoplasia type 2E;Pontocerebellar hypoplasia 2E (#615851) 24577744 False 2 0;0;0 22.109 False ENSG00000141252 ENSG00000141252 HGNC:25608 WSB2 gene WSB2 Expert Review Amber;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 40374945 False 2 0;100;0 22.109 False ENSG00000176871 ENSG00000176871 HGNC:19222 ZNF423 gene ZNF423 Expert Review Amber Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;50;50 22.109 False ENSG00000102935 ENSG00000102935 HGNC:16762 AARS gene AARS Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287;Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 False 1 0;0;0 22.109 False ENSG00000090861 ENSG00000090861 HGNC:20 ALAS2 gene ALAS2 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;0 22.109 False ENSG00000158578 ENSG00000158578 HGNC:397 ALG10 gene ALG10 Expert Review Red;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;0;100 22.109 False ENSG00000139133 ENSG00000139133 HGNC:23162 ALG13 gene ALG13 Expert Review Red;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epileptic encephalopathy, early infantile, 36 300884; ALG13-CDG (Disorders of protein N-glycosylation) 27604308;22492991;25732998 False 1 100;0;0 22.109 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG2 gene ALG2 Expert Review Red;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ii 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation) 23404334;12684507 False 1 0;0;100 22.109 False ENSG00000119523 ENSG00000119523 HGNC:23159 ATN1 gene ATN1 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Other Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 1 0;0;0 22.109 False Other - please provide details in the comments ENSG00000111676 ENSG00000111676 HGNC:3033 ATXN1 gene ATXN1 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Other Spinocerebellar ataxia 1, OMIM:164400 False 1 0;0;0 22.109 False Other - please provide details in the comments ENSG00000124788 ENSG00000124788 HGNC:10548 ATXN10 gene ATXN10 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Other Spinocerebellar ataxia 10, OMIM:603516 False 1 0;0;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000130638 ENSG00000130638 HGNC:10549 ATXN2 gene ATXN2 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Other Spinocerebellar ataxia 2, OMIM:183090 False 1 0;0;0 22.109 False Other - please provide details in the comments ENSG00000204842 ENSG00000204842 HGNC:10555 ATXN3 gene ATXN3 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Other Machado-Joseph disease, OMIM:109150 False 1 0;0;0 22.109 False Other - please provide details in the comments ENSG00000066427 ENSG00000066427 HGNC:7106 ATXN7 gene ATXN7 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Other Spinocerebellar ataxia 7, OMIM:164500 False 1 0;0;0 22.109 False Other - please provide details in the comments ENSG00000163635 ENSG00000163635 HGNC:10560 ATXN8 gene ATXN8 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 8 10192387 False 1 0;0;0 22.109 False Other - please provide details in the comments - - HGNC:32925 B9D1 gene B9D1 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) False 1 0;0;100 22.109 False ENSG00000108641 ENSG00000108641 HGNC:24123 BEAN1 gene BEAN1 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 31 117210 19878914 False 1 0;0;0 22.109 False ENSG00000166546 ENSG00000166546 HGNC:24160 BRF1 gene BRF1 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellofaciodental syndrome 616202 25561519 False 1 0;0;0 22.109 False ENSG00000185024 ENSG00000185024 HGNC:11551 C1GALT1C1 gene C1GALT1C1 Expert Review Red;UKGTN;Radboud University Medical Center, Nijmegen;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Other - please specify in evaluation comments Tn polyagglutination syndrome, somatic 300622; COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) 27604308;19778426;27536663 False 1 0;0;100 22.109 False ENSG00000171155 ENSG00000171155 HGNC:24338 CACNB4 gene CACNB4 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 5;Episodic Ataxia PMC1378014 False 1 0;0;0 22.109 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAD gene CAD Other Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Iz 616457 False 1 0;50;50 22.109 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAMLG gene CAMLG Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 22.109 False ENSG00000164615 ENSG00000164615 HGNC:1471 CCDC28B gene CCDC28B Expert Review Red;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome, MONDO:0018772 32139166;23727834 False 1 0;50;50 22.109 False ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC88C gene CCDC88C Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant spinocerebellar ataxia PMID: 25062847 False 1 0;0;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000015133 ENSG00000015133 HGNC:19967 CCT5 gene CCT5 Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Neuropathy, hereditary sensory, with spastic paraplegia, OMIM:256840 16333315;39480921 False 1 0;0;0 22.109 False ENSG00000150753 ENSG00000150753 HGNC:1618 COG2 gene COG2 Expert Review Red;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type IIq, 617395 11980916;24784932 False 1 0;0;100 22.109 False ENSG00000135775 ENSG00000135775 HGNC:6546 CYP2U1 gene CYP2U1 NHS GMS;Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive OMIM:615030;hereditary spastic paraplegia 56 MONDO:0014015 27292318 False 1 0;0;100 22.109 False ENSG00000155016 ENSG00000155016 HGNC:20582 DAB1 gene DAB1 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal cerebellar ataxia, MONDO:0000437 28686858 False 1 0;0;100 22.109 False Other - please provide details in the comments ENSG00000173406 ENSG00000173406 HGNC:2661 DHDDS gene DHDDS Expert Review Red;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861;?Congenital disorder of glycosylation, type 1bb, OMIM:613861 27343064;21295282;21295283 False 1 0;0;100 22.109 False ENSG00000117682 ENSG00000117682 HGNC:20603 DMXL2 gene DMXL2 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Polyendocrine-polyneuropathy syndrome, OMIM:616113 25248098 False 1 0;0;100 22.109 False ENSG00000104093 ENSG00000104093 HGNC:2938 DYNC1H1 gene DYNC1H1 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth, SMA, Intellectual disability False 1 0;0;0 22.109 False ENSG00000197102 ENSG00000197102 HGNC:2961 ELOVL5 gene ELOVL5 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 36 (#615957) False 1 0;0;0 22.109 False Other - please provide details in the comments ENSG00000012660 ENSG00000012660 HGNC:21308 EXOC8 gene EXOC8 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Unknown No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 22.109 False ENSG00000116903 ENSG00000116903 HGNC:24659 EXOSC1 gene EXOSC1 Expert Review Red;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 33463720 False 1 0;0;100 22.109 False ENSG00000171311 ENSG00000171311 HGNC:17286 FMR1 gene FMR1 NHS GMS;Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fragile X tremor/ataxia syndrome, OMIM:300623 False 1 0;0;100 22.109 False ENSG00000102081 ENSG00000102081 HGNC:3775 FRMD4A gene FRMD4A Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 25388005 False 1 0;0;0 22.109 False ENSG00000151474 ENSG00000151474 HGNC:25491 GALNT12 gene GALNT12 UKGTN;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Colorectal cancer, susceptibility to, 1} 608812; GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) 27604308 False 1 0;0;100 22.109 False ENSG00000119514 ENSG00000119514 HGNC:19877 GLS gene GLS Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Unknown Glucosidase 1 deficiency (Disorders of protein N-glycosylation) 27604308 False 1 0;100;0 22.109 False ENSG00000115419 ENSG00000115419 HGNC:4331 KIF14 gene KIF14 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 24128419 False 1 0;100;0 22.109 False ENSG00000118193 ENSG00000118193 HGNC:19181 MTPAP gene MTPAP Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, spastic, 4, False 1 0;0;0 22.109 False ENSG00000107951 ENSG00000107951 HGNC:25532 NAGLU gene NAGLU Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920) PMID: 25818867 False 1 0;0;0 22.109 False Other - please provide details in the comments ENSG00000108784 ENSG00000108784 HGNC:7632 NMNAT2 gene NMNAT2 Expert Review Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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 31136762 False 1 0;0;100 22.109 False ENSG00000157064 ENSG00000157064 HGNC:16789 NOP56 gene NOP56 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Other - please specifiy in evaluation comments Spinocerebellar ataxia 36, OMIM:614153 False 1 0;0;0 22.109 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101361 ENSG00000101361 HGNC:15911 NUS1 gene NUS1 Other Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type 1aa 617082 False 1 0;0;100 22.109 False ENSG00000153989 ENSG00000153989 HGNC:21042 OSTC gene OSTC Expert Review Red;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation 32267060 False 1 0;0;100 22.109 False ENSG00000198856 ENSG00000198856 HGNC:24448 PAX2 gene PAX2 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Unknown Ataxia,spastic2,autosomalrecessive(2) False 1 0;0;0 22.109 False ENSG00000075891 ENSG00000075891 HGNC:8616 PCLO gene PCLO Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia type 3;Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. PMID: 25832664 False 1 0;0;0 22.109 False ENSG00000186472 ENSG00000186472 HGNC:13406 PDE6D gene PDE6D Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665 24166846 False 1 0;50;50 22.109 False ENSG00000156973 ENSG00000156973 HGNC:8788 PIK3R5 gene PIK3R5 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 3 False 1 0;0;0 22.109 False ENSG00000141506 ENSG00000141506 HGNC:30035 POMK gene POMK Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249 24925318 False 1 0;0;0 22.109 False ENSG00000185900 ENSG00000185900 HGNC:26267 PPP2R2B gene PPP2R2B Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Other Spinocerebellar ataxia 12, OMIM:604326 False 1 0;0;0 22.109 False Other - please provide details in the comments ENSG00000156475 ENSG00000156475 HGNC:9305 PRICKLE1 gene PRICKLE1 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, OMIM:612437 False 1 0;0;0 22.109 False ENSG00000139174 ENSG00000139174 HGNC:17019 RABL2A gene RABL2A Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Unknown neural tube defects 33075816 False 1 0;0;100 22.109 False ENSG00000144134 ENSG00000144134 HGNC:9799 RNU12 gene RNU12 Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 33, OMIM:620208 27863452;33577674 False 1 0;0;100 22.109 False ENSG00000270022 ENSG00000276027 HGNC:19380 RUBCN gene RUBCN Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 20826435;23728897;32450808 False 1 100;0;0 22.109 False ENSG00000145016 ENSG00000145016 HGNC:28991 SAR1B gene SAR1B NHS GMS;Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, OMIM:246700 12692552;3792776;7601203;2426307;10521380;10665502;17945526 False 1 0;0;100 22.109 False ENSG00000152700 ENSG00000152700 HGNC:10535 SLC35A3 gene SLC35A3 Expert Review Red;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 24031089 False 1 0;0;100 22.109 False ENSG00000117620 ENSG00000117620 HGNC:11023 STT3B gene STT3B UKGTN;Other Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ix 615597 False 1 0;0;100 22.109 False ENSG00000163527 ENSG00000163527 HGNC:30611 STX5 gene STX5 Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type IIaa, OMIM:620454 34711829 False 1 0;0;100 22.109 False ENSG00000162236 ENSG00000162236 HGNC:11440 SYT14 gene SYT14 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellarataxia,autosomalrecessive11,614229 False 1 0;0;0 22.109 False ENSG00000143469 ENSG00000143469 HGNC:23143 TAPT1 gene TAPT1 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 26365339 False 1 0;0;100 22.109 False ENSG00000169762 ENSG00000169762 HGNC:26887 TBC1D32 gene TBC1D32 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IX, OMIM:258865;orofaciodigital syndrome IX, MONDO:0009795;Alsahan-Harris syndrome, OMIM:621307;Alsahan-Harris syndrome, MONDO:0979871 32573025;31130284;32060556;24285566;35875813 False 1 0;0;0 22.109 False ENSG00000146350 ENSG00000146350 HGNC:21485 TBP gene TBP Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology Other Spinocerebellar ataxia 17, OMIM:607136 False 1 0;0;0 22.109 False Other - please provide details in the comments ENSG00000112592 ENSG00000112592 HGNC:11588 TDP1 gene TDP1 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive with axonal neuropathy False 1 0;0;0 22.109 False ENSG00000042088 ENSG00000042088 HGNC:18884 TPR gene TPR Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, MONDO:0000437 34494102 False 1 0;0;100 22.109 False ENSG00000047410 ENSG00000047410 HGNC:12017 TRIP4 gene TRIP4 Expert Review Red;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures. 34075209 False 1 0;50;50 22.109 False ENSG00000103671 ENSG00000103671 HGNC:12310 TRMT5 gene TRMT5 Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 35342985 False 1 0;0;100 22.109 False ENSG00000126814 ENSG00000126814 HGNC:23141 TUBB gene TUBB Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 6, 615771 23246003, 27010057 False 1 0;0;0 22.109 False ENSG00000196230 ENSG00000196230 HGNC:20778 UBR4 gene UBR4 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia PMID: 23982692 False 1 0;0;0 22.109 False ENSG00000127481 ENSG00000127481 HGNC:30313 WDR63 gene WDR63 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown occipital encephalocele and inconsistent brain lobulation;ciliopathy-like disorder False 1 0;0;0 22.109 False ENSG00000162643 ENSG00000162643 HGNC:30711 ZFHX3 gene ZFHX3 Expert Review Red;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 4, OMIM:600223;spinocerebellar ataxia type 4, MONDO:0010847 38412861;38035881;37292950 False 1 0;50;50 22.109 False ENSG00000140836 ENSG00000140836 HGNC:777 ZFYVE26 gene ZFYVE26 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal 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. PMID:25497598;25842392 False 1 0;0;0 22.109 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZNF592 gene ZNF592 Expert Review Red Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 5 False 1 0;0;0 22.109 False ENSG00000166716 ENSG00000166716 HGNC:28986 ATXN10_ATTCT str ATXN10 Expert Review Green;NHS GMS;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516;spinocerebellar ataxia type 10, MONDO:0011330 12164725;35441258;36199580;40067487 False 3 100;0;0 22.109 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN2_CAG str ATXN2 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090 False 3 100;0;0 22.109 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN7_CAG str ATXN7 NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500 False 3 100;0;0 22.109 False ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37 CSTB_CCCCGCCCCGCG str CSTB NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800;Unverricht-Lundborg syndrome MONDO:0009698 8596935;15483648;9012407;9054946;9090386;11571333;9342192;15329070 False 3 100;0;0 22.109 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 FXN_GAA str FXN NHS GMS;Expert Review Green;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 False 3 100;0;0 22.109 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 ATN1_CAG str ATN1 NHS GMS;Expert Review Amber;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 20301664;8136840;20301664;8136840;8136826;7614090 False 2 100;0;0 22.109 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 ATXN1_CAG str ATXN1 NHS GMS;Expert Review Amber;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 2 100;0;0 22.109 False ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN3_CAG str ATXN3 NHS GMS;Expert Review Amber;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 2 100;0;0 22.109 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 CACNA1A_CAG str CACNA1A NHS GMS;Expert Review Amber;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086;spinocerebellar ataxia type 6, MONDO:0008457 18285829;19817876;16595610;8988170 False 2 75;25;0 22.109 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 NOP56_GGCCTG str NOP56 NHS GMS;Expert Review Amber;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 36, OMIM:614153 False 2 100;0;0 22.109 False ENSG00000101361 ENSG00000101361 HGNC:15911 20 2633380 2633403 2652734 2652757 GGCCTG 15 650 PPP2R2B_CAG str PPP2R2B NHS GMS;Expert Review Amber;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 False 2 100;0;0 22.109 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43 TBP_CAG str TBP NHS GMS;Expert Review Amber;Expert list Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136 20301611;34906452;35493319 False 2 100;0;0 22.109 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 GLS_GCA str GLS Expert Review Red;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 30970188 False 1 100;0;0 22.109 False ENSG00000115419 ENSG00000115419 HGNC:4331 2 191745599 191745646 190880873 190880920 GCA 50 400 THAP11_CAG str THAP11 Expert Review Red;Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 51, OMIM:620947 37148549;38757579;39441143 False 1 0;0;100 22.109 False ENSG00000168286 ENSG00000168286 HGNC:23194 16 67842863 67842950 CAG 38 47 ZFHX3_GGC str ZFHX3 Literature Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 4, OMIM:600223 False 1 100;0;0 22.109 False ENSG00000140836 ENSG00000140836 HGNC:777 16 72787694 72787757 GGC 26 41 ISCA-37478-Gain region Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 16840569;9106540;18374305 False 3 0;0;0 22.109 False 15 23465365 28134728 3 60 cnv_gain 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Loss region Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;Developmental delay, muscle weakness;176270;Angelman syndrome;Prader-Willi syndrome;105830;Mental retardation 7611294;22045295 False 3 0;0;0 22.109 False 15 23465365 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-46553-Loss region ClinGen;Expert Review Green Hereditary ataxia and cerebellar anomalies - childhood onset Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 21204220;15338008;22067867;21471554;28503614 False 3 100;0;0 22.109 False 3 136684193 148623326 3 60 cnv_loss 3q24 Region (includes ZIC1) Loss