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 ACOX1 gene ACOX1 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudoneonatal adrenoleukodystrophy Neurodegeneration;HP:0002180 18536048 False 1 0;0;100 6.225 True ENSG00000161533 ENSG00000161533 HGNC:119 AIFM1 gene AIFM1 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 False ENSG00000156709 ENSG00000156709 HGNC:8768 ALPL gene ALPL Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypophosphatasia, adult, MIM# 146300;Osteomalacia;Parkinsonism Neurodegeneration;HP:0002180 PMID: 32956941 False 1 50;0;50 6.225 True ENSG00000162551 ENSG00000162551 HGNC:438 ALS2 gene ALS2 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000003393 ENSG00000003393 HGNC:443 AMPD2 gene AMPD2 Expert Review Red;Other;Expert Review Red;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, 615809 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000116337 ENSG00000116337 HGNC:469 AMPD2 gene AMPD2 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 63 MIM#615686 Neurodegeneration;HP:0002180 24482476;30089829;29463858 False 1 0;0;100 6.225 True ENSG00000116337 ENSG00000116337 HGNC:469 ANG gene ANG Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000214274 ENSG00000214274 HGNC:483 ANG gene ANG Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Parkinson disease MONDO:0005180 Neurodegeneration;HP:0002180 33875291;25386690 False 1 0;0;100 6.225 True ENSG00000214274 ENSG00000214274 HGNC:483 ARL6 gene ARL6 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, 600151 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert list;Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, MIM#617622 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000135931 ENSG00000135931 HGNC:20730 ARPP21 gene ARPP21 ClinGen Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 Neurodegeneration;HP:0002180 30811981;31653410;35525134 False 1 0;0;100 6.225 False ENSG00000172995 ENSG00000172995 HGNC:16968 ARSI gene ARSI Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood onset spastic paraplegia Neurodegeneration;HP:0002180 24482476 False 1 0;0;100 6.225 True ENSG00000183876 ENSG00000183876 HGNC:32521 ASAH1 gene ASAH1 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000104763 ENSG00000104763 HGNC:735 ATP1A1 gene ATP1A1 Expert Review Red;Literature;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary spastic paraplegia Neurodegeneration;HP:0002180 31705535 False 1 0;0;100 6.225 True ENSG00000163399 ENSG00000163399 HGNC:799 ATP1A2 gene ATP1A2 Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 1, 104290;Familial hemiplegic migraine 2, 602481 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP7A gene ATP7A Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, distal, X-linked 3, 300489 Neurodegeneration;HP:0002180 False 1 67;0;33 6.225 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Royal Melbourne Hospital;Expert Review Red Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease 277900;Wilson disease, 277900 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP7B gene ATP7B Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000123191 ENSG00000123191 HGNC:870 ATXN10 gene ATXN10 Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar Ataxia 10;Parkinsonism;OMIM 603516 Neurodegeneration;HP:0002180 PMID: 28890930 False 1 100;0;0 6.225 True ENSG00000130638 ENSG00000130638 HGNC:10549 BBS10 gene BBS10 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, 615987 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, 615989 Neurodegeneration;HP:0002180 False 1 100;0;0 6.225 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, 615981 Neurodegeneration;HP:0002180 15637713 False 1 50;0;50 6.225 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, 615982 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, 615983 Neurodegeneration;HP:0002180 15637713 False 1 50;0;50 6.225 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, 615984 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, 615986 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000122507 ENSG00000122507 HGNC:30000 BICD2 gene BICD2 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 Neurodegeneration;HP:0002180 False 1 67;0;33 6.225 True ENSG00000185963 ENSG00000185963 HGNC:17208 CACNB4 gene CACNB4 Victorian Clinical Genetics Services;Royal Melbourne Hospital;Expert list;Expert Review Red;Expert Review Red;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia type 5, 613855 Neurodegeneration;HP:0002180 10762541;27003325;9628818 False 1 0;50;50 6.225 False ENSG00000182389 ENSG00000182389 HGNC:1404 CCDC28B gene CCDC28B Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Other {Bardet-Biedl syndrome 1, modifier of}, 209900 Neurodegeneration;HP:0002180 False 1 0;33;67 6.225 True ENSG00000160050 ENSG00000160050 HGNC:28163 CCT5 gene CCT5 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia;Sensory Neuropathy with Spastic Paraplegia Neurodegeneration;HP:0002180 16399879 False 1 0;0;100 6.225 True ENSG00000150753 ENSG00000150753 HGNC:1618 CHCHD10 gene CHCHD10 Literature;Expert Review Red;Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Neurodegeneration;HP:0002180 24934289 False 1 0;0;100 6.225 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHMP1A gene CHMP1A Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, 614961 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000131165 ENSG00000131165 HGNC:8740 CLPP gene CLPP Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3 MIM#614129 Neurodegeneration;HP:0002180 22037954 False 1 0;0;100 6.225 True ENSG00000125656 ENSG00000125656 HGNC:2084 CYP2U1 gene CYP2U1 Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, 615030 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000155016 ENSG00000155016 HGNC:20582 DAB1 gene DAB1 Expert Review Red;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, DAB1-related Neurodegeneration;HP:0002180 PMID: 33928188 False 1 33;33;33 6.225 True ENSG00000173406 ENSG00000173406 HGNC:2661 DAO gene DAO Expert Review Red;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis Neurodegeneration;HP:0002180 29274788;29895397;20368421;29194436 False 1 0;0;100 6.225 True ENSG00000110887 ENSG00000110887 HGNC:2671 DCAF17 gene DCAF17 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000115827 ENSG00000115827 HGNC:25784 DNAJC13 gene DNAJC13 Expert Review Red;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration;HP:0002180 30788857;24218364;29309590;31082451;29887357;27270108 False 1 0;100;0 6.225 True ENSG00000138246 ENSG00000138246 HGNC:30343 DNM2 gene DNM2 Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complicated hereditary spastic paraplegia Neurodegeneration;HP:0002180 26517984 False 1 0;0;100 6.225 False ENSG00000079805 ENSG00000079805 HGNC:2974 DYNC1H1 gene DYNC1H1 Expert Review Red;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000197102 ENSG00000197102 HGNC:2961 EEF2 gene EEF2 Victorian Clinical Genetics Services;GeneReviews;Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 26 Neurodegeneration;HP:0002180 15732118;23001565 False 1 0;0;0 6.225 False ENSG00000167658 ENSG00000167658 HGNC:3214 ELOVL1 gene ELOVL1 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 Neurodegeneration;HP:0002180 False 1 0;33;67 6.225 True ENSG00000066322 ENSG00000066322 HGNC:14418 ERLIN1 gene ERLIN1 Expert Review Red;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis Neurodegeneration;HP:0002180 29453415 False 1 0;0;100 6.225 True ENSG00000107566 ENSG00000107566 HGNC:16947 EWSR1 gene EWSR1 Expert Review Red;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis Neurodegeneration;HP:0002180 29731676;22454397 False 1 0;100;0 6.225 True ENSG00000182944 ENSG00000182944 HGNC:3508 EXOSC3 gene EXOSC3 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, 614678 Neurodegeneration;HP:0002180 False 1 100;0;0 6.225 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC8 gene EXOSC8 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, MIM# 616081 Neurodegeneration;HP:0002180 24989451 False 1 0;0;100 6.225 True ENSG00000120699 ENSG00000120699 HGNC:17035 FA2H gene FA2H Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, MIM# 612319 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000103089 ENSG00000103089 HGNC:21197 FIG4 gene FIG4 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000112367 ENSG00000112367 HGNC:16873 FOXG1 gene FOXG1 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rett syndrome Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000176165 ENSG00000176165 HGNC:3811 FUS gene FUS Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "tremor, hereditary essential, 4 MONDO:0013888" Neurodegeneration;HP:0002180 22863194;23834483;23825177;38626532 False 1 0;0;100 6.225 True ENSG00000089280 ENSG00000089280 HGNC:4010 GAD1 gene GAD1 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebralpalsy, spasticquadriplegic,1, 603513 Neurodegeneration;HP:0002180 15571623 False 1 0;0;100 6.225 True ENSG00000128683 ENSG00000128683 HGNC:4092 GCH1 gene GCH1 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000131979 ENSG00000131979 HGNC:4193 GIGYF2 gene GIGYF2 Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 11} , OMIM # 607688 Neurodegeneration;HP:0002180 18358451;33239198;25279164;20060621;19250854;26152800;19449032 False 1 0;50;50 6.225 True ENSG00000204120 ENSG00000204120 HGNC:11960 GNE gene GNE Expert Review Green;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis Neurodegeneration;HP:0002180 29086072 False 1 50;0;50 6.225 False ENSG00000159921 ENSG00000159921 HGNC:23657 GRID2 gene GRID2 Expert Review Red;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complicated spastic paraplegia Neurodegeneration;HP:0002180 24122788 False 1 0;0;100 6.225 True ENSG00000152208 ENSG00000152208 HGNC:4576 GSN gene GSN Expert Review Red;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type MIM#105120 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000148180 ENSG00000148180 HGNC:4620 HARS2 gene HARS2 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 2, MIM# 614926" Neurodegeneration;HP:0002180 31827252 False 1 0;0;100 6.225 True ENSG00000112855 ENSG00000112855 HGNC:4817 HARS2 gene HARS2 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM#614926 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000112855 ENSG00000112855 HGNC:4817 HEXA gene HEXA Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM2 Gangliosidosis;Tay-Sachs disease;Parkinsonism;OMIM 272800 Neurodegeneration;HP:0002180 PMID: 33069254 False 1 50;0;50 6.225 True ENSG00000213614 ENSG00000213614 HGNC:4878 HTRA2 gene HTRA2 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000115317 ENSG00000115317 HGNC:14348 IFRD1 gene IFRD1 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary spastic paraplegia MONDO:0019064, IFRD1-related Neurodegeneration;HP:0002180 29362493 False 1 0;0;100 6.225 True ENSG00000006652 ENSG00000006652 HGNC:5456 IFRD1 gene IFRD1 Literature;Expert Review Red;Expert Review;Expert Review Red;Expert Review Red;Expert Review;Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary spastic paraplegia MONDO:0019064, IFRD1-related Neurodegeneration;HP:0002180 29362493;28601596;19409521 False 1 0;0;100 6.225 False ENSG00000006652 ENSG00000006652 HGNC:5456 IGHMBP2 gene IGHMBP2 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VI 604320 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000132740 ENSG00000132740 HGNC:5542 KCNJ15 gene KCNJ15 Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease, MONDO:0005180, KCNJ15-related Neurodegeneration;HP:0002180 40566643 False 1 0;0;100 6.225 True ENSG00000157551 ENSG00000157551 HGNC:6261 KLC4 gene KLC4 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129 Neurodegeneration;HP:0002180 26423925 False 1 0;0;100 6.225 True ENSG00000137171 ENSG00000137171 HGNC:21624 LARS2 gene LARS2 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4 MIM#615300 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000011376 ENSG00000011376 HGNC:17095 LAS1L gene LAS1L Expert Review Green;Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females congenital lethal motor neuron disease Neurodegeneration;HP:0002180 24647030 False 1 50;0;50 6.225 True ENSG00000001497 ENSG00000001497 HGNC:25726 MME gene MME Victorian Clinical Genetics Services;Expert Review Red;GeneReviews;Royal Melbourne Hospital;Expert Review Green;Royal Melbourne Hospital;GeneReviews;Expert Review Red Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Spinocerebellar ataxia type 43, 617018 Neurodegeneration;HP:0002180 27583304 False 1 0;0;100 6.225 False ENSG00000196549 ENSG00000196549 HGNC:7154 MT-ND6 gene MT-ND6 Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MITOCHONDRIAL Leber Optic Atrophy;Parkinsonism;OMIM 516006 Neurodegeneration;HP:0002180 PMID: 33109474 False 1 50;0;50 6.225 True ENSG00000198695 ENSG00000198695 HGNC:7462 MTPAP gene MTPAP Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive, 613672;Ataxia, spastic, 4;Spastic ataxia 4, autosomal recessive Neurodegeneration;HP:0002180 27391121;20970105 False 1 0;0;100 6.225 True ENSG00000107951 ENSG00000107951 HGNC:25532 NEFH gene NEFH Expert Review Red;ClinGen Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000100285 ENSG00000100285 HGNC:7737 NOL3 gene NOL3 Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myoclonus, familial cortical Neurodegeneration;HP:0002180 22926851 False 1 0;0;100 6.225 False ENSG00000140939 ENSG00000140939 HGNC:7869 NR4A2 gene NR4A2 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000153234 ENSG00000153234 HGNC:7981 OPA3 gene OPA3 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000125741 ENSG00000125741 HGNC:8142 PAX6 gene PAX6 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aniridia, 106210;Aniridia, Cerebellar Ataxia, And Mental Retardation Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 False ENSG00000007372 ENSG00000007372 HGNC:8620 PCDH12 gene PCDH12 Expert Review Green;Expert Review Red;Royal Melbourne Hospital;GeneReviews;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cerebellar ataxia, dystonia, retinopathy, and dysmorphism Neurodegeneration;HP:0002180 30459466 False 1 50;0;50 6.225 True ENSG00000113555 ENSG00000113555 HGNC:8657 PCP4 gene PCP4 Expert Review Red;Literature;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related Neurodegeneration;HP:0002180 39852553 False 1 0;0;100 6.225 True ENSG00000183036 ENSG00000183036 HGNC:8742 PCYT2 gene PCYT2 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal global developmental delay;regression;spastic parapesis or tetraparesis;epilepsy;progressive cerebral and cerebellar atrophy Neurodegeneration;HP:0002180 31637422 False 1 50;0;50 6.225 True ENSG00000185813 ENSG00000185813 HGNC:8756 PGAP1 gene PGAP1 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 42 Neurodegeneration;HP:0002180 24482476 False 1 0;0;100 6.225 True ENSG00000197121 ENSG00000197121 HGNC:25712 PIK3R5 gene PIK3R5 Expert Review Red;Expert Review Red;Literature;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 3, OMIM #615217 Neurodegeneration;HP:0002180 PubMed: 22065524 False 1 0;0;100 6.225 True ENSG00000141506 ENSG00000141506 HGNC:30035 PLEKHG5 gene PLEKHG5 Expert Review Red;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 Neurodegeneration;HP:0002180 17564964 False 1 0;0;100 6.225 True ENSG00000171680 ENSG00000171680 HGNC:29105 PODXL gene PODXL Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown juvenile-onset Parkinson disease Neurodegeneration;HP:0002180 26864383;20706633 False 1 0;100;0 6.225 False ENSG00000128567 ENSG00000128567 HGNC:9171 PPIA gene PPIA Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated Neurodegeneration;HP:0002180 34972208 False 1 0;0;100 6.225 True ENSG00000196262 ENSG00000196262 HGNC:9253 PRICKLE1 gene PRICKLE1 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive myoclonic epilepsy 1B, 612437;Progressive Myoclonus Epilepsy with Ataxia Neurodegeneration;HP:0002180 20301774 False 1 0;0;100 6.225 True ENSG00000139174 ENSG00000139174 HGNC:17019 PRKCH gene PRKCH Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alzheimer disease, MONDO:0004975, PRKCH-related Neurodegeneration;HP:0002180 40591711 False 1 0;0;100 6.225 True ENSG00000027075 ENSG00000027075 HGNC:9403 PSEN2 gene PSEN2 Expert Review Red;Other Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism;Alzheimer disease-4 MIM#606889 Neurodegeneration;HP:0002180 22118943;26422362;18427071;29692703 False 1 0;0;100 6.225 True ENSG00000143801 ENSG00000143801 HGNC:9509 RAPGEF2 gene RAPGEF2 Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092;amyotrophic lateral sclerosis MONDO:0004976 Neurodegeneration;HP:0002180 41556274;30636905 False 1 0;0;100 6.225 True ENSG00000109756 ENSG00000109756 HGNC:16854 RARS2 gene RARS2 Expert Review Red;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523;early onset cerebellar ataxia Neurodegeneration;HP:0002180 31429931;17847012;25809939;20635367 False 1 0;0;100 6.225 True ENSG00000146282 ENSG00000146282 HGNC:21406 RIC3 gene RIC3 Expert Review Red;Other Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease Neurodegeneration;HP:0002180 27055476;28153381;28606768;32794657 False 1 0;0;100 6.225 True ENSG00000166405 ENSG00000166405 HGNC:30338 SAR1B gene SAR1B Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, 246700 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000152700 ENSG00000152700 HGNC:10535 SARS2 gene SARS2 Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive spastic paraplegia Neurodegeneration;HP:0002180 27279129 False 1 0;0;100 6.225 True ENSG00000104835 ENSG00000104835 HGNC:17697 SEPSECS gene SEPSECS Victorian Clinical Genetics Services;Expert list;Expert Review Red;Expert Review Red;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, 613811;cerebellar ataxia and cognitive impairment Neurodegeneration;HP:0002180 29464431 False 1 0;0;100 6.225 False ENSG00000109618 ENSG00000109618 HGNC:30605 SETX gene SETX Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 False ENSG00000107290 ENSG00000107290 HGNC:445 SLC19A3 gene SLC19A3 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Biotin-thiamine-responsive basal ganglia disease, MIM#607483 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC27A3 gene SLC27A3 Expert Review Red;Literature;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related Neurodegeneration;HP:0002180 PMID: 41054338 False 1 0;0;100 6.225 True ENSG00000143554 ENSG00000143554 HGNC:10997 SLC33A1 gene SLC33A1 Expert Review Red;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic paraplegia 42, autosomal dominant, MIM# 612539" Neurodegeneration;HP:0002180 19061983;20461110 False 1 0;0;100 6.225 True ENSG00000169359 ENSG00000169359 HGNC:95 SLC52A1 gene SLC52A1 Expert Review Red;Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency, MIM#615026 Neurodegeneration;HP:0002180 29122468;17689999 False 1 0;0;100 6.225 True ENSG00000132517 ENSG00000132517 HGNC:30225 SNCB gene SNCB Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia, Lewy body, MIM#127750 Neurodegeneration;HP:0002180 15365127;20697047 False 1 0;0;100 6.225 True ENSG00000074317 ENSG00000074317 HGNC:11140 SOD1 gene SOD1 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 False ENSG00000142168 ENSG00000142168 HGNC:11179 SPART gene SPART Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 False ENSG00000133104 ENSG00000133104 HGNC:18514 STXBP1 gene STXBP1 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spasticity;Early infantile epileptic encephalopathy 4 Neurodegeneration;HP:0002180 32815282 False 1 0;0;100 6.225 True ENSG00000136854 ENSG00000136854 HGNC:11444 SYT14 gene SYT14 Victorian Clinical Genetics Services;Expert Review Red;GeneReviews;Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellarataxia,autosomalrecessive11,614229 Neurodegeneration;HP:0002180 21835308 False 1 0;0;100 6.225 False ENSG00000143469 ENSG00000143469 HGNC:23143 TET2 gene TET2 Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia Neurodegeneration;HP:0002180 32330418;31943063 False 1 0;0;100 6.225 True ENSG00000168769 ENSG00000168769 HGNC:25941 TGM6 gene TGM6 Victorian Clinical Genetics Services;Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Expert Review Red;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 35, 613908;Spinocerebellar ataxia 35 Neurodegeneration;HP:0002180 25253745;21106500;28934387;22554020;30670339;29053796;23206699 False 1 0;0;100 6.225 False ENSG00000166948 ENSG00000166948 HGNC:16255 TH gene TH Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive MIM#605407 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000180176 ENSG00000180176 HGNC:11782 TMEM230 gene TMEM230 Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 21, MIM#616361 Neurodegeneration;HP:0002180 30804554;27270108;28115417;28017548;30804555;30804556;31323517 False 1 0;100;0 6.225 False ENSG00000089063 ENSG00000089063 HGNC:15876 TPP1 gene TPP1 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis neuronal 2, MIM#204500 Neurodegeneration;HP:0002180 27217339 False 1 0;0;100 6.225 True ENSG00000166340 ENSG00000166340 HGNC:2073 TPR gene TPR Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Neurodegeneration;HP:0002180 34494102 False 1 0;0;100 6.225 True ENSG00000047410 ENSG00000047410 HGNC:12017 TRIM32 gene TRIM32 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110;?Bardet-Biedl syndrome 11, 615988 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRIP4 gene TRIP4 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Neurodegeneration;HP:0002180 26924529 False 1 0;0;100 6.225 True ENSG00000103671 ENSG00000103671 HGNC:12310 TRPV4 gene TRPV4 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, distal, congenital nonprogressive, 600175 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000111199 ENSG00000111199 HGNC:18083 TSEN2 gene TSEN2 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, 612389 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 2C, 612390 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN54 gene TSEN54 Expert list;Expert Review Red;Expert list;Expert list;Expert Review Red;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown adult-onset cerebellar ataxia Neurodegeneration;HP:0002180 24938831 False 1 0;0;100 6.225 False ENSG00000182173 ENSG00000182173 HGNC:27561 TTC8 gene TTC8 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, 615985 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000165533 ENSG00000165533 HGNC:20087 TTR gene TTR Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyloidosis, hereditary, transthyretin-related, MIM# 105210 Neurodegeneration;HP:0002180 8960746 False 1 0;0;100 6.225 True ENSG00000118271 ENSG00000118271 HGNC:12405 TUBA1A gene TUBA1A Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3, 611603 Neurodegeneration;HP:0002180 21403111 False 1 67;0;33 6.225 True ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB2A gene TUBB2A Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset 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 Neurodegeneration;HP:0002180 29547997;32203252 False 1 50;0;50 6.225 True ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB4A gene TUBB4A Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 True ENSG00000104833 ENSG00000104833 HGNC:20774 UBA1 gene UBA1 Expert Review Red;Expert Review Green;Expert list;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 Neurodegeneration;HP:0002180 18179898;32181232;31932168;29034082;27699224;26028276;23518311 False 1 50;0;50 6.225 True ENSG00000130985 ENSG00000130985 HGNC:12469 UCHL1 gene UCHL1 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 False ENSG00000154277 ENSG00000154277 HGNC:12513 VAPB gene VAPB Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown Amyotrophic lateral sclerosis 8 MIM#608627;Spinal muscular atrophy, late-onset, Finkel type MIM#182980 Neurodegeneration;HP:0002180 False 1 0;0;100 6.225 False ENSG00000124164 ENSG00000124164 HGNC:12649 WASL gene WASL Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson's disease, MONDO:0005180, WASL-related Neurodegeneration;HP:0002180 PMID: 33571872 False 1 50;0;50 6.225 True ENSG00000106299 ENSG00000106299 HGNC:12735 WDPCP gene WDPCP Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 15, 615992;?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Neurodegeneration;HP:0002180 False 1 50;0;50 6.225 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR48 gene WDR48 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia Neurodegeneration;HP:0002180 24482476 False 1 0;0;100 6.225 True ENSG00000114742 ENSG00000114742 HGNC:30914 ZFR gene ZFR Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complicated hereditary spastic paraplegia Neurodegeneration;HP:0002180 24482476 False 1 0;0;100 6.225 True ENSG00000056097 ENSG00000056097 HGNC:17277 ZFYVE27 gene ZFYVE27 Royal Melbourne Hospital;Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 33, autosomal dominant, MIM#610244 Neurodegeneration;HP:0002180 29980238;18606302;16826525 False 1 0;0;100 6.225 False ENSG00000155256 ENSG00000155256 HGNC:26559 ZNF423 gene ZNF423 Expert Review Red;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 14 Neurodegeneration;HP:0002180 False 1 0;33;67 6.225 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF592 gene ZNF592 Expert Review Red;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 5;Galloway-Mowat Syndrome 1, 251300 Neurodegeneration;HP:0002180 20531441;26123727 False 1 0;0;100 6.225 True ENSG00000166716 ENSG00000166716 HGNC:28986 LMNB1 upstream region region Literature;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215 Neurodegeneration;HP:0002180 PMID: 30842973;30697589;25701871 False 1 100;0;0 6.225 False 5 126522203 126689287 80 cnv_loss LMNB1 upstream region