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
ACBD5	gene	ACBD5	Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services	Ataxia - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy;syndromic cleft palate;ataxia;retinal dystrophy			Ataxia;HP:0001251	27799409;23105016		False	2	50;50;0	1.30	True		ENSG00000107897	ENSG00000107897	HGNC:23338													
ATG5	gene	ATG5	Expert Review Amber;Royal Melbourne Hospital	Ataxia - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Spinocerebellar ataxia, autosomal recessive 25			Ataxia;HP:0001251	16625204;26812546		False	2	0;100;0	1.30	True		ENSG00000057663	ENSG00000057663	HGNC:589													
ATP2B3	gene	ATP2B3	Expert list;Expert Review Amber;GeneReviews;Royal Melbourne Hospital	Ataxia - paediatric		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)	Spinocerebellar ataxia, X-linked 1			Ataxia;HP:0001251			False	2	0;100;0	1.30	True		ENSG00000067842	ENSG00000067842	HGNC:816													
CHP1	gene	CHP1	Expert Review Amber;Literature	Ataxia - paediatric		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	1.30	True		ENSG00000187446	ENSG00000187446	HGNC:17433													
HARS	gene	HARS	Expert Review Amber;Literature	Ataxia - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	multisystem ataxic syndrome			Ataxia;HP:0001251	32333447		False	2	33;67;0	1.30	True		ENSG00000170445	ENSG00000170445	HGNC:4816													
KCNQ2	gene	KCNQ2	Expert list;Expert Review Amber;Royal Melbourne Hospital	Ataxia - paediatric		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Early infantile encephalopathy 7, 613720;Myokymia, 121200			Ataxia;HP:0001251	22169383;20962009;10575255		False	2	33;67;0	1.30	True		ENSG00000075043	ENSG00000075043	HGNC:6296													
MAPK8IP3	gene	MAPK8IP3	Expert Review Amber;Literature;Royal Melbourne Hospital	Ataxia - paediatric		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431			Ataxia;HP:0001251	30612693;30945334		False	2	0;100;0	1.30	True		ENSG00000138834	ENSG00000138834	HGNC:6884													
MKKS	gene	MKKS	Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services	Ataxia - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 6, 605231			Ataxia;HP:0001251	15637713		False	2	67;33;0	1.30	True		ENSG00000125863	ENSG00000125863	HGNC:7108													
MTPAP	gene	MTPAP	Expert Review Amber;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Ataxia - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Ataxia, spastic, 4,;Autosomal recessive spastic ataxia 4, 613672			Ataxia;HP:0001251	20970105;26319014;25008111		False	2	50;50;0	1.30	True		ENSG00000107951	ENSG00000107951	HGNC:25532													
PRKCG	gene	PRKCG	Expert Review;Expert Review Amber	Ataxia - paediatric		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spinocerebellar ataxia 14, MIM# 605361			Ataxia;HP:0001251	34292398		False	2	0;100;0	1.30	True		ENSG00000126583	ENSG00000126583	HGNC:9402													
RFXANK	gene	RFXANK	Expert Review Amber;Literature	Ataxia - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Progressive Ataxia and Neurologic Regression;MHC class II deficiency, complementation group B MIM#209920			Ataxia;HP:0001251	PMID: 33855173;23314770;28676232		False	2	50;50;0	1.30	True		ENSG00000064490	ENSG00000064490	HGNC:9987													
SLC9A1	gene	SLC9A1	Expert Review Amber;Royal Melbourne Hospital	Ataxia - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Lichtenstein-Knorr Syndrome, MIM#	616291"			Ataxia;HP:0001251	25205112;30018422;25760855		False	2	0;100;0	1.30	True		ENSG00000090020	ENSG00000090020	HGNC:11071													
SYNGAP1	gene	SYNGAP1	Expert Review Amber;Royal Melbourne Hospital	Ataxia - paediatric		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autosomal dominant mental retardation 5, 612621			Ataxia;HP:0001251	26989088		False	2	0;100;0	1.30	True		ENSG00000197283	ENSG00000197283	HGNC:11497													
TMEM138	gene	TMEM138	Expert Review Amber;Royal Melbourne Hospital	Ataxia - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Joubert syndrome 16, MIM#	614465"			Ataxia;HP:0001251			False	2	0;100;0	1.30	True		ENSG00000149483	ENSG00000149483	HGNC:26944													
TMEM231	gene	TMEM231	Expert Review Amber;Royal Melbourne Hospital	Ataxia - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 20, MIM# 614970;Meckel syndrome 11 615397			Ataxia;HP:0001251			False	2	0;100;0	1.30	True		ENSG00000205084	ENSG00000205084	HGNC:37234													
UBA5	gene	UBA5	Expert Review Amber;GeneReviews;Royal Melbourne Hospital	Ataxia - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Autosomal recessive spinocerebellar ataxia 24, 617133;Early infantile epileptic encephalopathy 44, 617132			Ataxia;HP:0001251	26872069;29902590		False	2	0;100;0	1.30	True		ENSG00000081307	ENSG00000081307	HGNC:23230													
UBR4	gene	UBR4	Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Ataxia - paediatric		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Episodic ataxia;Episodic ataxia type 8, 616055			Ataxia;HP:0001251	29062094;23982692;28600779		False	2	0;100;0	1.30	True		ENSG00000127481	ENSG00000127481	HGNC:30313													
VRK1	gene	VRK1	Expert list;Expert Review Amber	Ataxia - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 1A, 607596			Ataxia;HP:0001251	19646678;21937992;25609612;24126608;27281532		False	2	0;100;0	1.30	True		ENSG00000100749	ENSG00000100749	HGNC:12718