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 AFG3L2 gene AFG3L2 Expert Review Amber;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 Spinocerebellar ataxia 28, MIM# 610246;optic atrophy;spastic ataxia;L-dopa-responsive parkinsonism Neurodegeneration;HP:0002180 30252181;36110148 False 2 33;33;33 6.47 True ENSG00000141385 ENSG00000141385 HGNC:315 ANG gene ANG Expert Review Amber;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 Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753;MIM#611895) Neurodegeneration;HP:0002180 17886298;16501576;18087731;20301623 False 2 100;0;0 6.47 True ENSG00000214274 ENSG00000214274 HGNC:483 APOE gene APOE Expert Review Amber;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 Alzheimer disease 2, MIM# 104310 Neurodegeneration;HP:0002180 False 2 0;100;0 6.47 True ENSG00000130203 ENSG00000130203 HGNC:613 APP gene APP Expert Review Amber;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 Alzheimer disease 1, familial, MIM# 104300 Neurodegeneration;HP:0002180 False 2 0;100;0 6.47 True ENSG00000142192 ENSG00000142192 HGNC:620 ATP2B4 gene ATP2B4 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pure and complicated hereditary spastic paraplegia Neurodegeneration;HP:0002180 29691679;25798335;25119969 False 2 0;100;0 6.47 True ENSG00000058668 ENSG00000058668 HGNC:817 BICD2 gene BICD2 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291 Neurodegeneration;HP:0002180 23664120;25497877;24482476 False 2 0;100;0 6.47 True ENSG00000185963 ENSG00000185963 HGNC:17208 CCDC88C gene CCDC88C Expert Review Amber;Royal Melbourne Hospital;GeneReviews;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant spinocerebellar ataxia;?Spinocerebellar ataxia 40, 616053 Neurodegeneration;HP:0002180 25062847;30398676 False 2 33;67;0 6.47 True ENSG00000015133 ENSG00000015133 HGNC:19967 CCNF gene CCNF Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 Neurodegeneration;HP:0002180 27080313 False 2 0;100;0 6.47 True ENSG00000162063 ENSG00000162063 HGNC:1591 CCNF gene CCNF Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 Neurodegeneration;HP:0002180 29102476;31577344;27080313;28105640;31445393;28852778 False 2 0;100;0 6.47 True ENSG00000162063 ENSG00000162063 HGNC:1591 CHP1 gene CHP1 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM #618438 Neurodegeneration;HP:0002180 29379881;32787936 False 2 50;50;0 6.47 True ENSG00000187446 ENSG00000187446 HGNC:17433 COASY gene COASY Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, MIM# 615643 Neurodegeneration;HP:0002180 28489334;24360804 False 2 0;100;0 6.47 True ENSG00000068120 ENSG00000068120 HGNC:29932 COL4A2 gene COL4A2 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial porencephaly MONDO:0020496 Neurodegeneration;HP:0002180 35699195;37272523;36300346 False 2 0;100;0 6.47 True ENSG00000134871 ENSG00000134871 HGNC:2203 CYLD gene CYLD Expert Review Amber;Literature;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Neurodegeneration;HP:0002180 32666117;32666099;32185393 False 2 25;50;25 6.47 True Other ENSG00000083799 ENSG00000083799 HGNC:2584 CYLD gene CYLD Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Neurodegeneration;HP:0002180 32185393 False 2 0;50;50 6.47 True ENSG00000083799 ENSG00000083799 HGNC:2584 DDC gene DDC Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, MIM# 608643;Infantile-onset parkinsonism & dystonia;Bulbar dysfunction;Oculogyric crisis;Autonomic dysfunction;Intellectual disability Neurodegeneration;HP:0002180 PMID: 33983693 False 2 50;50;0 6.47 True ENSG00000132437 ENSG00000132437 HGNC:2719 DHDDS gene DHDDS Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay and seizures with or without movement abnormalities, MIM# 617836;Myoclonic Epilepsy;Parkinsonism;Ataxia;Intellectual disability Neurodegeneration;HP:0002180 PMID: 34837344;29100083 False 2 50;50;0 6.47 True ENSG00000117682 ENSG00000117682 HGNC:20603 DNAJC7 gene DNAJC7 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown amyotrophic lateral sclerosis Neurodegeneration;HP:0002180 31768050 False 2 33;67;0 6.47 True ENSG00000168259 ENSG00000168259 HGNC:12392 EPM2A gene EPM2A Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780;Progressive Myoclonic Epilepsy;Parkinsonism Neurodegeneration;HP:0002180 27574708;28818698 False 2 50;50;0 6.47 True ENSG00000112425 ENSG00000112425 HGNC:3413 ERBB4 gene ERBB4 Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 19 MIM#615515 Neurodegeneration;HP:0002180 24119685;28889094 False 2 100;0;0 6.47 True ENSG00000178568 ENSG00000178568 HGNC:3432 FDXR gene FDXR Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, 617717;Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Neurodegeneration;HP:0002180 30250212;28965846;29040572;33348459;37046037;37481223 False 2 0;50;50 6.47 True ENSG00000161513 ENSG00000161513 HGNC:3642 FIG4 gene FIG4 Expert Review Amber;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 Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945;MIM#612577) Neurodegeneration;HP:0002180 False 2 100;0;0 6.47 True ENSG00000112367 ENSG00000112367 HGNC:16873 GBA gene GBA Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Other {Lewy body dementia, susceptibility to} (MIM# 127750) Neurodegeneration;HP:0002180 23588557;32439597;31010158 False 2 0;100;0 6.47 True ENSG00000177628 ENSG00000177628 HGNC:4177 GJC2 gene GJC2 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2, 608804, AR;Spastic paraplegia 44, autosomal recessive 613206, AR Neurodegeneration;HP:0002180 19056803;23684670 False 2 0;100;0 6.47 True ENSG00000198835 ENSG00000198835 HGNC:17494 GLT8D1 gene GLT8D1 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis Neurodegeneration;HP:0002180 30811981 False 2 50;50;0 6.47 True ENSG00000016864 ENSG00000016864 HGNC:24870 HNRNPA1 gene HNRNPA1 Expert Review Amber;Other Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424;Amyotrophic lateral sclerosis 20 MIM#615426 Neurodegeneration;HP:0002180 24612671;24119545;23455423 False 2 0;0;100 6.47 True ENSG00000135486 ENSG00000135486 HGNC:5031 HNRNPA2B1 gene HNRNPA2B1 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 Neurodegeneration;HP:0002180 23455423;30279180;29358076;26744327;23635965 False 2 0;100;0 6.47 True ENSG00000122566 ENSG00000122566 HGNC:5033 HNRNPA2B1 gene HNRNPA2B1 Expert Review Amber;ClinGen Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 Neurodegeneration;HP:0002180 25299611 False 2 0;0;100 6.47 True ENSG00000122566 ENSG00000122566 HGNC:5033 HSPD1 gene HSPD1 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 13, autosomal dominant, MIM# 605280 Neurodegeneration;HP:0002180 26900593;11898127;17420924 False 2 0;100;0 6.47 True ENSG00000144381 ENSG00000144381 HGNC:5261 KIF5A gene KIF5A Expert Review Amber;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 Spastic paraplegia 10, autosomal dominant MIM#604187 Neurodegeneration;HP:0002180 18853458 False 2 0;100;0 6.47 True ENSG00000155980 ENSG00000155980 HGNC:6323 KIF5A gene KIF5A Expert Review Amber;Other Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060670 Neurodegeneration;HP:0002180 33077544;36604770 False 2 0;100;0 6.47 True Other ENSG00000155980 ENSG00000155980 HGNC:6323 LGALSL gene LGALSL Expert Review Amber;ClinGen Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Unknown amyotrophic lateral sclerosis MONDO:0004976 Neurodegeneration;HP:0002180 30940688 False 2 0;100;0 6.47 True ENSG00000119862 ENSG00000119862 HGNC:25012 LYST gene LYST Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;Spastic paraplegia;Chediak-Higashi syndrome, 214500 Neurodegeneration;HP:0002180 26307451;24521565 False 2 0;100;0 6.47 True ENSG00000143669 ENSG00000143669 HGNC:1968 MATR3 gene MATR3 Expert Review Amber;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 Amyotrophic lateral sclerosis 21 MIM#606070;frontotemporal dementia;multisystem proteinopathy Neurodegeneration;HP:0002180 24686783;30015619;28029397;33408686 False 2 0;100;0 6.47 True ENSG00000015479 ENSG00000015479 HGNC:6912 MTCL1 gene MTCL1 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spinocerebellar ataxia Neurodegeneration;HP:0002180 30548255;28283581 False 2 0;100;0 6.47 True ENSG00000168502 ENSG00000168502 HGNC:29121 NHLRC1 gene NHLRC1 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780;Lafora disease;Progressive Myoclonic Epilepsy;Parkinsonism Neurodegeneration;HP:0002180 22425593;32301727 False 2 50;50;0 6.47 True ENSG00000187566 ENSG00000187566 HGNC:21576 PLD3 gene PLD3 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 46 Neurodegeneration;HP:0002180 30312375;30312384;29053796 False 2 0;100;0 6.47 False ENSG00000105223 ENSG00000105223 HGNC:17158 PNPLA6 gene PNPLA6 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149 Neurodegeneration;HP:0002180 32623594;36825042 False 2 0;100;0 6.47 True ENSG00000032444 ENSG00000032444 HGNC:16268 PNPT1 gene PNPT1 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spinocerebellar ataxia 25, MIM# 608703" Neurodegeneration;HP:0002180 35411967;37935417 False 2 50;50;0 6.47 True ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 4a MONDO:0008758" Neurodegeneration;HP:0002180 15477547;14694057;16638794 False 2 0;100;0 6.47 True ENSG00000140521 ENSG00000140521 HGNC:9179 PRPH gene PRPH Expert Review Amber;Expert Review Amber;Expert list;Victorian Clinical Genetics Services;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Neurodegeneration;HP:0002180 20363051;15322088;15446584 False 2 0;100;0 6.47 True ENSG00000135406 ENSG00000135406 HGNC:9461 PRPS1 gene PRPS1 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy Neurodegeneration;HP:0002180 33898739;28967191 False 2 33;67;0 6.47 True ENSG00000147224 ENSG00000147224 HGNC:9462 PTPA gene PTPA Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability, MONDO: 36073231, PTPA-related;Parkisonism Neurodegeneration;HP:0002180 36073231;37448355 False 2 0;100;0 6.47 True ENSG00000119383 ENSG00000119383 HGNC:9308 RAB32 gene RAB32 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923 Neurodegeneration;HP:0002180 38614108;38858457 False 2 0;50;50 6.47 True Other ENSG00000118508 ENSG00000118508 HGNC:9772 RNF13 gene RNF13 Expert Review Amber;Literature;Expert Review Green;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis Neurodegeneration;HP:0002180 PMID: 35879052 False 2 50;50;0 6.47 True ENSG00000082996 ENSG00000082996 HGNC:10057 SDHA gene SDHA Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 Neurodegeneration;HP:0002180 10976639;27683074 False 2 0;100;0 6.47 True ENSG00000073578 ENSG00000073578 HGNC:10680 SQSTM1 gene SQSTM1 Expert Review Amber;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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437) Neurodegeneration;HP:0002180 22084127;22972638 False 2 0;100;0 6.47 True ENSG00000161011 ENSG00000161011 HGNC:11280 SQSTM1 gene SQSTM1 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services;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 "Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640" Neurodegeneration;HP:0002180 False 2 100;0;0 6.47 True ENSG00000161011 ENSG00000161011 HGNC:11280 SS18L1 gene SS18L1 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis (MONDO:0004976) Neurodegeneration;HP:0002180 25888396;24360741;23708140;30976389 False 2 50;50;0 6.47 True ENSG00000184402 ENSG00000184402 HGNC:15592 TAF15 gene TAF15 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis;Frontotemporal dementia Neurodegeneration;HP:0002180 28889094 False 2 0;100;0 6.47 False ENSG00000172660 ENSG00000270647 HGNC:11547 TAF15 gene TAF15 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis Neurodegeneration;HP:0002180 21438137;22065782;27810362;28889094 False 2 0;100;0 6.47 True ENSG00000172660 ENSG00000270647 HGNC:11547 TDP1 gene TDP1 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Neurodegeneration;HP:0002180 31182267;12244316 False 2 0;100;0 6.47 True ENSG00000042088 ENSG00000042088 HGNC:18884 TIA1 gene TIA1 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders Other Multisystem proteinopathy Neurodegeneration;HP:0002180 36861178;29599744;29457785 False 2 0;100;0 6.47 True ENSG00000116001 ENSG00000116001 HGNC:11802 TIA1 gene TIA1 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133" Neurodegeneration;HP:0002180 29235362;29886022;29773329;29699721;29216908;24659297;29457785;28817800 False 2 0;100;0 6.47 True ENSG00000116001 ENSG00000116001 HGNC:11802 TRPC3 gene TRPC3 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration;HP:0002180 25477146;26112884 False 2 0;100;0 6.47 True ENSG00000138741 ENSG00000138741 HGNC:12335 TUBB4A gene TUBB4A Expert Review Amber;Expert list;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ataxia;Leukodystrophy, hypomyelinating, 612438 AD;Dystonia 4, torsion, autosomal dominant, 128101 Neurodegeneration;HP:0002180 23582646;24850488 False 2 0;100;0 6.47 True ENSG00000104833 ENSG00000104833 HGNC:20774 UBQLN4 gene UBQLN4 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis Neurodegeneration;HP:0002180 28463112;30804504 False 2 0;100;0 6.47 False ENSG00000160803 ENSG00000160803 HGNC:1237 UQCRC1 gene UQCRC1 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, MIM# 619279 Neurodegeneration;HP:0002180 33141179;33248804 False 2 0;100;0 6.47 True ENSG00000010256 ENSG00000010256 HGNC:12585 VAMP1 gene VAMP1 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic ataxia 1, autosomal dominant, 108600 Neurodegeneration;HP:0002180 22958904 False 2 0;100;0 6.47 True ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP1 gene VAMP1 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant spastic ataxia 1, 108600;Spastic ataxia 1, autosomal dominant, 108600 Neurodegeneration;HP:0002180 22958904 False 2 0;100;0 6.47 True ENSG00000139190 ENSG00000139190 HGNC:12642 VRK1 gene VRK1 Expert Review Amber;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 Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia;Distal hereditary motor neuropathy;dHMN/dSMA Neurodegeneration;HP:0002180 31560180;32242460;31178479;31837156;30847374;34169149;26583493 False 2 0;50;50 6.47 True ENSG00000100749 ENSG00000100749 HGNC:12718 ZFYVE26 gene ZFYVE26 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic paraplegia 15, 270700 Neurodegeneration;HP:0002180 24367272;18394578 False 2 50;50;0 6.47 True ENSG00000072121 ENSG00000072121 HGNC:20761 CANVAS_ACAGG str RFC1 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome;fasciculations;elevated serum creatine kinase levels;denervation Neurodegeneration;HP:0002180 33103729 False 2 0;100;0 6.47 True ENSG00000035928 ENSG00000035928 HGNC:9969 4 39350045 39350103 39348425 39348483 ACAGG 0 400