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
ATP1A2	gene	ATP1A2	Expert Review Red;Royal Melbourne Hospital	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alternating hemiplegia of childhood 1, 104290;Familial hemiplegic migraine 2, 602481			Ataxia;HP:0001251			False	1	0;0;100	1.63	True		ENSG00000018625	ENSG00000018625	HGNC:800													
ATP7B	gene	ATP7B	Expert Review Red;Royal Melbourne Hospital	Ataxia - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Wilson disease 277900;Wilson disease, 277900			Ataxia;HP:0001251			False	1	0;0;100	1.63	True		ENSG00000123191	ENSG00000123191	HGNC:870													
CACNB4	gene	CACNB4	Expert list;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic ataxia type 5, 613855			Ataxia;HP:0001251	10762541;27003325;9628818		False	1	0;50;50	1.63	True		ENSG00000182389	ENSG00000182389	HGNC:1404													
CHCHD10	gene	CHCHD10	Expert Review Red;Literature	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532			Ataxia;HP:0001251	24934289		False	1	0;0;100	1.63	True		ENSG00000250479	ENSG00000250479	HGNC:15559													
EEF2	gene	EEF2	Expert Review Red;GeneReviews;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Spinocerebellar ataxia 26			Ataxia;HP:0001251	15732118;23001565		False	1	100;0;0	1.63	True		ENSG00000167658	ENSG00000167658	HGNC:3214													
IFRD1	gene	IFRD1	Expert Review;Expert Review Red;Literature	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hereditary spastic paraplegia MONDO:0019064, IFRD1-related			Ataxia;HP:0001251	29362493;28601596;19409521		False	1	0;0;100	1.63	True		ENSG00000006652	ENSG00000006652	HGNC:5456													
MME	gene	MME	Expert Review Green;Expert Review Red;GeneReviews;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Spinocerebellar ataxia type 43, 617018			Ataxia;HP:0001251	27583304		False	1	50;0;50	1.63	False		ENSG00000196549	ENSG00000196549	HGNC:7154													
NOL3	gene	NOL3	Expert Review Red;Royal Melbourne Hospital	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myoclonus, familial cortical			Ataxia;HP:0001251	22926851		False	1	0;0;100	1.63	True		ENSG00000140939	ENSG00000140939	HGNC:7869													
SEPSECS	gene	SEPSECS	Expert list;Expert Review Red;Victorian Clinical Genetics Services	Ataxia - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2D, 613811;cerebellar ataxia and cognitive impairment			Ataxia;HP:0001251	29464431		False	1	50;0;50	1.63	True		ENSG00000109618	ENSG00000109618	HGNC:30605													
SYT14	gene	SYT14	Expert Review Red;GeneReviews;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Ataxia - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Spinocerebellarataxia,autosomalrecessive11,614229			Ataxia;HP:0001251	21835308		False	1	0;0;100	1.63	False		ENSG00000143469	ENSG00000143469	HGNC:23143													
TGM6	gene	TGM6	Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 35, 613908;Spinocerebellar ataxia 35			Ataxia;HP:0001251	25253745;21106500;28934387;22554020;30670339;29053796;23206699		False	1	0;0;100	1.63	True		ENSG00000166948	ENSG00000166948	HGNC:16255													
TSEN54	gene	TSEN54	Expert list;Expert Review Red	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	adult-onset cerebellar ataxia			Ataxia;HP:0001251	24938831		False	1	0;0;100	1.63	False		ENSG00000182173	ENSG00000182173	HGNC:27561													
VWA3B	gene	VWA3B	Expert Review Red;GeneReviews;Royal Melbourne Hospital	Ataxia - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Spinocerebellar ataxia, autosomal recessive 22			Ataxia;HP:0001251	26157035		False	1	0;0;100	1.63	False		ENSG00000168658	ENSG00000168658	HGNC:28385													
LMNB1 upstream region	region		Literature;Literature	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215			Ataxia;HP:0001251	PMID: 30842973;30697589;25701871		False	1	100;0;0	1.63	False					5			126522203	126689287						80	cnv_loss	LMNB1 upstream region