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
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													
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