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 AMPD2 gene AMPD2 Expert Review Green;Expert Review Red;Other;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, 615809 Ataxia;HP:0001251 False 1 0;0;100 1.30 True ENSG00000116337 ENSG00000116337 HGNC:469 ARL6 gene ARL6 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, 600151 Ataxia;HP:0001251 False 1 50;0;50 1.30 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert list;Expert Review Red;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, MIM#617622 Ataxia;HP:0001251 False 1 50;0;50 1.30 True ENSG00000135931 ENSG00000135931 HGNC:20730 BBS10 gene BBS10 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, 615987 Ataxia;HP:0001251 False 1 50;0;50 1.30 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, 615989 Ataxia;HP:0001251 False 1 100;0;0 1.30 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, 615981 Ataxia;HP:0001251 15637713 False 1 50;0;50 1.30 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, 615982 Ataxia;HP:0001251 False 1 50;0;50 1.30 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, 615983 Ataxia;HP:0001251 15637713 False 1 50;0;50 1.30 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, 615984 Ataxia;HP:0001251 False 1 50;0;50 1.30 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, 615986 Ataxia;HP:0001251 False 1 50;0;50 1.30 True ENSG00000122507 ENSG00000122507 HGNC:30000 CCDC28B gene CCDC28B Expert list;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders Other {Bardet-Biedl syndrome 1, modifier of}, 209900 Ataxia;HP:0001251 False 1 0;33;67 1.30 True ENSG00000160050 ENSG00000160050 HGNC:28163 CHMP1A gene CHMP1A Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, 614961 Ataxia;HP:0001251 False 1 50;0;50 1.30 True ENSG00000131165 ENSG00000131165 HGNC:8740 COQ5 gene COQ5 Expert list;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 9, MIM#619028;Cerebellar ataxia;encephalopathy;generalized tonic-clonic seizures;intellectual disability Ataxia;HP:0001251 29044765 False 1 0;0;100 1.30 True ENSG00000110871 ENSG00000110871 HGNC:28722 CYP2U1 gene CYP2U1 Expert list;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, 615030 Ataxia;HP:0001251 False 1 0;0;100 1.30 True ENSG00000155016 ENSG00000155016 HGNC:20582 DAB1 gene DAB1 Expert list;Expert Review Red;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal epilepsy;developmental delay;cerebellar ataxia;structural brain abnormalities;oral motor difficulty Ataxia;HP:0001251 PMID: 33928188 False 1 33;33;33 1.30 True ENSG00000173406 ENSG00000173406 HGNC:2661 ELOVL1 gene ELOVL1 Expert list;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 Ataxia;HP:0001251 False 1 0;33;67 1.30 True ENSG00000066322 ENSG00000066322 HGNC:14418 EXOSC3 gene EXOSC3 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, 614678 Ataxia;HP:0001251 False 1 100;0;0 1.30 True ENSG00000107371 ENSG00000107371 HGNC:17944 HARS2 gene HARS2 Expert Review Red;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 2, MIM# 614926" Ataxia;HP:0001251 31827252 False 1 0;0;100 1.30 True ENSG00000112855 ENSG00000112855 HGNC:4817 PAX6 gene PAX6 Expert Review Red;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aniridia, 106210;Aniridia, Cerebellar Ataxia, And Mental Retardation Ataxia;HP:0001251 False 1 50;0;50 1.30 False ENSG00000007372 ENSG00000007372 HGNC:8620 PCDH12 gene PCDH12 Expert Review Green;Expert Review Red;GeneReviews;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cerebellar ataxia, dystonia, retinopathy, and dysmorphism Ataxia;HP:0001251 30459466 False 1 50;0;50 1.30 True ENSG00000113555 ENSG00000113555 HGNC:8657 PCYT2 gene PCYT2 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal global developmental delay;regression;spastic parapesis or tetraparesis;epilepsy;progressive cerebral and cerebellar atrophy Ataxia;HP:0001251 31637422 False 1 50;0;50 1.30 True ENSG00000185813 ENSG00000185813 HGNC:8756 PIK3R5 gene PIK3R5 Expert Review Red;Literature;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 3, OMIM #615217 Ataxia;HP:0001251 PubMed: 22065524 False 1 0;0;100 1.30 True ENSG00000141506 ENSG00000141506 HGNC:30035 PRICKLE1 gene PRICKLE1 Expert Review Red;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive myoclonic epilepsy 1B, 612437;Progressive Myoclonus Epilepsy with Ataxia Ataxia;HP:0001251 20301774 False 1 0;0;100 1.30 True ENSG00000139174 ENSG00000139174 HGNC:17019 RARS2 gene RARS2 Expert list;Expert Review Red Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523;early onset cerebellar ataxia Ataxia;HP:0001251 31429931;17847012;25809939;20635367 False 1 0;0;100 1.30 True ENSG00000146282 ENSG00000146282 HGNC:21406 SAR1B gene SAR1B Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, 246700 Ataxia;HP:0001251 False 1 50;0;50 1.30 True ENSG00000152700 ENSG00000152700 HGNC:10535 TPR gene TPR Expert Review Red;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Ataxia;HP:0001251 34494102 False 1 0;0;100 1.30 True ENSG00000047410 ENSG00000047410 HGNC:12017 TRIM32 gene TRIM32 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110;?Bardet-Biedl syndrome 11, 615988 Ataxia;HP:0001251 False 1 50;0;50 1.30 True ENSG00000119401 ENSG00000119401 HGNC:16380 TSEN2 gene TSEN2 Expert list;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, 612389 Ataxia;HP:0001251 False 1 0;0;100 1.30 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert list;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 2C, 612390 Ataxia;HP:0001251 False 1 0;0;100 1.30 True ENSG00000170892 ENSG00000170892 HGNC:15506 TTC8 gene TTC8 Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, 615985 Ataxia;HP:0001251 False 1 50;0;50 1.30 True ENSG00000165533 ENSG00000165533 HGNC:20087 TUBA1A gene TUBA1A Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3, 611603 Ataxia;HP:0001251 21403111 False 1 67;0;33 1.30 True ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB2A gene TUBB2A Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?progressive spastic ataxia syndrome resembling sacsinopathy;Complex cortical dysplasia with other brain malformations 5, 615763 Ataxia;HP:0001251 29547997;32203252 False 1 50;0;50 1.30 True ENSG00000137267 ENSG00000137267 HGNC:12412 WDPCP gene WDPCP Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 15, 615992;?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Ataxia;HP:0001251 False 1 50;0;50 1.30 True ENSG00000143951 ENSG00000143951 HGNC:28027 ZNF423 gene ZNF423 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 14 Ataxia;HP:0001251 False 1 0;33;67 1.30 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF592 gene ZNF592 Expert Review Red;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 5;Galloway-Mowat Syndrome 1, 251300 Ataxia;HP:0001251 20531441;26123727 False 1 0;0;100 1.30 True ENSG00000166716 ENSG00000166716 HGNC:28986