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
CCDC88C	gene	CCDC88C	Expert Review Amber;GeneReviews;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	autosomal dominant spinocerebellar ataxia;?Spinocerebellar ataxia 40, 616053			Ataxia;HP:0001251	25062847;30398676		False	2	33;67;0	1.63	True		ENSG00000015133	ENSG00000015133	HGNC:19967													
CHP1	gene	CHP1	Expert Review Amber;Literature	Ataxia - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic ataxia 9, autosomal recessive, OMIM #618438			Ataxia;HP:0001251	29379881;32787936		False	2	50;50;0	1.63	True		ENSG00000187446	ENSG00000187446	HGNC:17433													
FDXR	gene	FDXR	Expert list;Expert Review Amber;Victorian Clinical Genetics Services	Ataxia - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Auditory neuropathy and optic atrophy, 617717;Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887			Ataxia;HP:0001251	30250212;28965846;29040572;33348459;37046037;37481223		False	2	0;50;50	1.63	True		ENSG00000161513	ENSG00000161513	HGNC:3642													
MTCL1	gene	MTCL1	Expert list;Expert Review Amber	Ataxia - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	spinocerebellar ataxia			Ataxia;HP:0001251	30548255;28283581		False	2	0;100;0	1.63	True		ENSG00000168502	ENSG00000168502	HGNC:29121													
PLD3	gene	PLD3	Expert Review Amber;GeneReviews;Royal Melbourne Hospital	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Spinocerebellar ataxia 46			Ataxia;HP:0001251	30312375;30312384;29053796		False	2	0;100;0	1.63	False		ENSG00000105223	ENSG00000105223	HGNC:17158													
PRPS1	gene	PRPS1	Expert Review Amber;Literature	Ataxia - adult onset		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy			Ataxia;HP:0001251	33898739;28967191		False	2	33;67;0	1.63	True		ENSG00000147224	ENSG00000147224	HGNC:9462													
SDHA	gene	SDHA	Expert list;Expert Review Amber	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259			Ataxia;HP:0001251	10976639;27683074		False	2	0;100;0	1.63	True		ENSG00000073578	ENSG00000073578	HGNC:10680													
TDP1	gene	TDP1	Expert Review Amber;Royal Melbourne Hospital	Ataxia - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250			Ataxia;HP:0001251	31182267;12244316		False	2	0;100;0	1.63	True		ENSG00000042088	ENSG00000042088	HGNC:18884													
TRPC3	gene	TRPC3	Expert Review Amber;GeneReviews;Royal Melbourne Hospital	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown				Ataxia;HP:0001251	25477146;26112884		False	2	0;100;0	1.63	True		ENSG00000138741	ENSG00000138741	HGNC:12335													
VAMP1	gene	VAMP1	Expert Review Amber;Royal Melbourne Hospital	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Autosomal dominant spastic ataxia 1, 108600;Spastic ataxia 1, autosomal dominant, 108600			Ataxia;HP:0001251	22958904		False	2	0;100;0	1.63	True		ENSG00000139190	ENSG00000139190	HGNC:12642													
ZFYVE26	gene	ZFYVE26	Expert Review Amber;Royal Melbourne Hospital	Ataxia - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Autosomal recessive spastic paraplegia 15, 270700			Ataxia;HP:0001251	24367272;18394578		False	2	50;50;0	1.63	True		ENSG00000072121	ENSG00000072121	HGNC:20761													
THAP11_SCA51_CAG	str	THAP11	Expert Review Amber;Literature	Ataxia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spinocerebellar ataxia 51 MONDO:0975800			Ataxia;HP:0001251	15368101;24677642;34165550;38113319;40459937;39651830;37148549		False	2	0;100;0	1.63	True		ENSG00000168286	ENSG00000168286	HGNC:23194	16	67876766	67876853	67842863	67842950	CAG	39	47