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
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													
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