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 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 6.47 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 6.47 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 6.47 True ENSG00000003393 ENSG00000003393 HGNC:443 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 6.47 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 6.47 True ENSG00000214274 ENSG00000214274 HGNC:483 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 6.47 False ENSG00000172995 ENSG00000172995 HGNC:16968 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 6.47 True ENSG00000104763 ENSG00000104763 HGNC:735 ATP1A2 gene ATP1A2 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 6.47 True 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 6.47 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Red;Royal Melbourne Hospital 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 6.47 True 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 6.47 True ENSG00000123191 ENSG00000123191 HGNC:870 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 6.47 True ENSG00000185963 ENSG00000185963 HGNC:17208 CACNB4 gene CACNB4 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 6.47 True ENSG00000182389 ENSG00000182389 HGNC:1404 CHCHD10 gene CHCHD10 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 6.47 True ENSG00000250479 ENSG00000250479 HGNC:15559 COQ7 gene COQ7 Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia, COQ7-related (MONDO#0019064) Neurodegeneration;HP:0002180 PMID: 33215859 False 1 0;0;100 6.47 False ENSG00000167186 ENSG00000167186 HGNC:2244 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 6.47 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 6.47 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 6.47 True ENSG00000138246 ENSG00000138246 HGNC:30343 DNM2 gene DNM2 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 6.47 True 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 6.47 True ENSG00000197102 ENSG00000197102 HGNC:2961 EEF2 gene EEF2 Expert Review Red;Royal Melbourne Hospital;GeneReviews;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 1 100;0;0 6.47 True ENSG00000167658 ENSG00000167658 HGNC:3214 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 6.47 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 6.47 True ENSG00000182944 ENSG00000182944 HGNC:3508 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 6.47 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 6.47 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 6.47 True ENSG00000112367 ENSG00000112367 HGNC:16873 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 6.47 True ENSG00000089280 ENSG00000089280 HGNC:4010 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 6.47 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 6.47 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 6.47 False ENSG00000159921 ENSG00000159921 HGNC:23657 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 6.47 True ENSG00000148180 ENSG00000148180 HGNC:4620 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 6.47 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 6.47 True ENSG00000115317 ENSG00000115317 HGNC:14348 IFRD1 gene IFRD1 Expert Review Red;Expert Review;Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 18 MIM#607458 Neurodegeneration;HP:0002180 29362493;28601596;19409521 False 1 0;0;100 6.47 True 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 6.47 True ENSG00000132740 ENSG00000132740 HGNC:5542 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 6.47 True ENSG00000001497 ENSG00000001497 HGNC:25726 MME gene MME Expert Review Green;Royal Melbourne Hospital;GeneReviews;Expert Review Red;Victorian Clinical Genetics Services 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 50;0;50 6.47 False ENSG00000196549 ENSG00000196549 HGNC:7154 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 6.47 True ENSG00000100285 ENSG00000100285 HGNC:7737 NOL3 gene NOL3 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 6.47 True 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 6.47 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 6.47 True ENSG00000125741 ENSG00000125741 HGNC:8142 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 6.47 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 6.47 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 6.47 True ENSG00000196262 ENSG00000196262 HGNC:9253 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 6.47 True ENSG00000143801 ENSG00000143801 HGNC:9509 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 6.47 True ENSG00000166405 ENSG00000166405 HGNC:30338 SEPSECS gene SEPSECS Expert Review Red;Expert list;Victorian Clinical Genetics Services 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 50;0;50 6.47 True 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 6.47 False ENSG00000107290 ENSG00000107290 HGNC:445 SLC33A1 gene SLC33A1 Expert Review Red;Expert list;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 42, autosomal dominant;Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD Neurodegeneration;HP:0002180 27935820;19061983 False 1 0;0;100 6.47 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 6.47 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 6.47 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 6.47 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 6.47 False ENSG00000133104 ENSG00000133104 HGNC:18514 SYT14 gene SYT14 Expert Review Red;Royal Melbourne Hospital;GeneReviews;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 6.47 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 6.47 True ENSG00000168769 ENSG00000168769 HGNC:25941 TGM6 gene TGM6 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 6.47 True 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 Unknown Neurodegeneration;HP:0002180 False 1 0;0;100 6.47 False 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 6.47 False ENSG00000089063 ENSG00000089063 HGNC:15876 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 6.47 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 6.47 True ENSG00000111199 ENSG00000111199 HGNC:18083 TSEN54 gene TSEN54 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 6.47 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSPOAP1 gene TSPOAP1 Expert Review Red;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 22, MIM# 620453 Neurodegeneration;HP:0002180 33539324 False 1 0;50;50 6.47 True ENSG00000005379 ENSG00000005379 HGNC:16831 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 6.47 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 6.47 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 6.47 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 6.47 False ENSG00000124164 ENSG00000124164 HGNC:12649 VWA3B gene VWA3B Expert Review Red;Royal Melbourne Hospital;GeneReviews Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 22 Neurodegeneration;HP:0002180 26157035 False 1 0;0;100 6.47 False ENSG00000168658 ENSG00000168658 HGNC:28385 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 6.47 True ENSG00000106299 ENSG00000106299 HGNC:12735 ZFYVE27 gene ZFYVE27 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 6.47 True ENSG00000155256 ENSG00000155256 HGNC:26559