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 AAAS gene AAAS Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome MIM#231550;complicated hereditary spastic paraplegia Neurodegeneration;HP:0002180 30381913 False 2 0;100;0 6.225 True ENSG00000094914 ENSG00000094914 HGNC:13666 ACBD5 gene ACBD5 Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy;syndromic cleft palate;ataxia;retinal dystrophy Neurodegeneration;HP:0002180 27799409;23105016 False 2 50;50;0 6.225 True ENSG00000107897 ENSG00000107897 HGNC:23338 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 6.225 True ENSG00000141385 ENSG00000141385 HGNC:315 ALK gene ALK Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic-dystonic diplegia Neurodegeneration;HP:0002180 PMID: 32989326 False 2 0;100;0 6.225 True ENSG00000171094 ENSG00000171094 HGNC:427 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 6.225 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 6.225 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 6.225 True ENSG00000142192 ENSG00000142192 HGNC:620 ATG5 gene ATG5 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 25 Neurodegeneration;HP:0002180 16625204;26812546 False 2 0;100;0 6.225 True ENSG00000057663 ENSG00000057663 HGNC:589 ATP2B4 gene ATP2B4 Royal Melbourne Hospital;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 6.225 False ENSG00000058668 ENSG00000058668 HGNC:817 BICD2 gene BICD2 Expert list;Expert Review Amber;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 6.225 False ENSG00000185963 ENSG00000185963 HGNC:17208 C17orf80 gene C17orf80 Expert Review Amber;Literature;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 Neurodegeneration;HP:0002180 41720819 False 2 0;100;0 6.225 True ENSG00000141219 ENSG00000141219 HGNC:29601 CAPN1 gene CAPN1 Expert list;Expert Review Amber;Expert list;Expert Review Green;Expert Review Green;Expert list;Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 76, autosomal recessive, 616907;MONDO:0014827 Neurodegeneration;HP:0002180 27320912;29678961;30572172;31023339;31104286 False 2 50;50;0 6.225 False ENSG00000014216 ENSG00000014216 HGNC:1476 CCDC88C gene CCDC88C Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early-onset pure hereditary spastic paraplegia Neurodegeneration;HP:0002180 33602173 False 2 0;100;0 6.225 True ENSG00000015133 ENSG00000015133 HGNC:19967 CCDC88C gene CCDC88C Victorian Clinical Genetics Services;GeneReviews;Royal Melbourne Hospital;Expert Review Amber;Expert Review Amber;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 6.225 False 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 29102476;31577344;27080313;28105640;31445393;28852778 False 2 0;100;0 6.225 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 27080313 False 2 0;100;0 6.225 True ENSG00000162063 ENSG00000162063 HGNC:1591 CHMP3 gene CHMP3 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Neurodegeneration;HP:0002180 PMID: 35710109 False 2 0;100;0 6.225 True ENSG00000115561 ENSG00000115561 HGNC:29865 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 6.225 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 6.225 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 6.225 True ENSG00000134871 ENSG00000134871 HGNC:2203 CPT1C gene CPT1C Expert Review Amber;Royal Melbourne Hospital;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 73, autosomal dominant, MIM#616282;MONDO:0014568 Neurodegeneration;HP:0002180 25751282;30911584;30564185;23973755;41312619 False 2 50;50;0 6.225 True ENSG00000169169 ENSG00000169169 HGNC:18540 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 6.225 True ENSG00000083799 ENSG00000083799 HGNC:2584 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 6.225 True Other 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 6.225 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 6.225 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;40802071;35039179;34233860;32897108;37870677;35456894 False 2 33;67;0 6.225 True ENSG00000168259 ENSG00000168259 HGNC:12392 DSTYK gene DSTYK Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 23, MIM#270750 Neurodegeneration;HP:0002180 28157540;23862974 False 2 0;100;0 6.225 True ENSG00000133059 ENSG00000133059 HGNC:29043 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 6.225 True ENSG00000112425 ENSG00000112425 HGNC:3413 EXOSC3 gene EXOSC3 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1b;Complicated hereditary spastic paraplegia Neurodegeneration;HP:0002180 25149867;23975261 False 2 0;100;0 6.225 True ENSG00000107371 ENSG00000107371 HGNC:17944 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 6.225 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 6.225 True ENSG00000177628 ENSG00000177628 HGNC:4177 GJC2 gene GJC2 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 44, autosomal recessive, MIM# 613206" Neurodegeneration;HP:0002180 19056803;31431325;25059390 False 2 0;100;0 6.225 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 6.225 True ENSG00000016864 ENSG00000016864 HGNC:24870 HARS gene HARS Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal multisystem ataxic syndrome Neurodegeneration;HP:0002180 32333447 False 2 33;67;0 6.225 True ENSG00000170445 ENSG00000170445 HGNC:4816 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 6.225 True ENSG00000135486 ENSG00000135486 HGNC:5031 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 6.225 True ENSG00000122566 ENSG00000122566 HGNC:5033 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 6.225 True ENSG00000122566 ENSG00000122566 HGNC:5033 IRF2BPL gene IRF2BPL Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088" Neurodegeneration;HP:0002180 PMID: 30057031;30166628 False 2 0;100;0 6.225 True ENSG00000119669 ENSG00000119669 HGNC:14282 KCNQ2 gene KCNQ2 Expert Review Amber;Expert list;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 7, 613720;Myokymia, 121200 Neurodegeneration;HP:0002180 22169383;20962009;10575255 False 2 33;67;0 6.225 True ENSG00000075043 ENSG00000075043 HGNC:6296 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 6.225 True Other ENSG00000155980 ENSG00000155980 HGNC:6323 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 6.225 True 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 6.225 True ENSG00000119862 ENSG00000119862 HGNC:25012 LYST gene LYST Royal Melbourne Hospital;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 6.225 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAPK8IP3 gene MAPK8IP3 Expert Review Amber;Literature;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Neurodegeneration;HP:0002180 30612693;30945334 False 2 0;100;0 6.225 True ENSG00000138834 ENSG00000138834 HGNC:6884 MARS gene MARS Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 70, autosomal recessive, MIM# 620323 Neurodegeneration;HP:0002180 24482476;34585293 False 2 0;50;50 6.225 True ENSG00000166986 ENSG00000166986 HGNC:6898 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 6.225 True ENSG00000015479 ENSG00000015479 HGNC:6912 MKKS gene MKKS Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6, 605231 Neurodegeneration;HP:0002180 15637713 False 2 67;33;0 6.225 True ENSG00000125863 ENSG00000125863 HGNC:7108 MTPAP gene MTPAP Expert Review Green;Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Ataxia, spastic, 4,;Autosomal recessive spastic ataxia 4, 613672 Neurodegeneration;HP:0002180 20970105;26319014;25008111 False 2 50;50;0 6.225 True ENSG00000107951 ENSG00000107951 HGNC:25532 MT-TC gene MT-TC Expert Review Amber;Expert list;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TC-related Neurodegeneration;HP:0002180 8829635;9185178;17241783;11453453;16955414;32169613;36039763;17724295;35252560;34433719;30030363 False 2 0;100;0 6.225 True ENSG00000210140 ENSG00000210140 HGNC:7477 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 6.225 True ENSG00000187566 ENSG00000187566 HGNC:21576 PCDHA9 gene PCDHA9 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal amyotrophic lateral sclerosis MONDO:0004976 Neurodegeneration;HP:0002180 38467605 False 2 0;100;0 6.225 True ENSG00000204961 ENSG00000204961 HGNC:8675 PCNA gene PCNA Expert Review Amber;ClinGen Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hereditary ataxia MONDO:0100309 Neurodegeneration;HP:0002180 24911150, 33426167, 36990216 False 2 0;100;0 6.225 True ENSG00000132646 ENSG00000132646 HGNC:8729 PLD3 gene PLD3 GeneReviews;Royal Melbourne Hospital;Expert Review Amber;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 29053796;30312375;30312384;38059248 False 2 0;100;0 6.225 False ENSG00000105223 ENSG00000105223 HGNC:17158 PNPLA6 gene PNPLA6 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 39, autosomal recessive, MIM# 612020" Neurodegeneration;HP:0002180 18313024 False 2 0;100;0 6.225 True ENSG00000032444 ENSG00000032444 HGNC:16268 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 6.225 True ENSG00000032444 ENSG00000032444 HGNC:16268 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 6.225 True ENSG00000140521 ENSG00000140521 HGNC:9179 PRKCG gene PRKCG Expert Review Amber;Expert Review Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 14, MIM# 605361 Neurodegeneration;HP:0002180 34292398 False 2 0;100;0 6.225 True ENSG00000126583 ENSG00000126583 HGNC:9402 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 6.225 True ENSG00000135406 ENSG00000135406 HGNC:9461 PRPS1 gene PRPS1 Literature;Expert Review Amber;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 0;100;0 6.225 False 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;Parkinson disease MONDO:0005180, PTPA-related Neurodegeneration;HP:0002180 36073231;37448355;37046398 False 2 0;100;0 6.225 True ENSG00000119383 ENSG00000119383 HGNC:9308 RBMX gene RBMX Expert Review Amber;Expert Review Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related Neurodegeneration;HP:0002180 39263607 False 2 0;100;0 6.225 True ENSG00000147274 ENSG00000147274 HGNC:9910 RBMX gene RBMX Expert Review Amber;Expert Review Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related Neurodegeneration;HP:0002180 39263607 False 2 0;100;0 6.225 True ENSG00000147274 ENSG00000147274 HGNC:9910 RFXANK gene RFXANK Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive Ataxia and Neurologic Regression;MHC class II deficiency, complementation group B MIM#209920 Neurodegeneration;HP:0002180 PMID: 33855173;23314770;28676232 False 2 50;50;0 6.225 True ENSG00000064490 ENSG00000064490 HGNC:9987 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 6.225 True ENSG00000082996 ENSG00000082996 HGNC:10057 SDHA gene SDHA Expert list;Expert Review Amber;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 6.225 False ENSG00000073578 ENSG00000073578 HGNC:10680 SIDT2 gene SIDT2 Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lysosomal storage disease, MONDO:0002561, SIDT2-related Neurodegeneration;HP:0002180 PMID: 40541391 False 2 0;100;0 6.225 True ENSG00000149577 ENSG00000149577 HGNC:24272 SORL1 gene SORL1 Expert Review Amber;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease, MONDO:0004975, SORL1-related Neurodegeneration;HP:0002180 27026413;39226352;40182695 False 2 0;50;50 6.225 True ENSG00000137642 ENSG00000137642 HGNC:11185 SOX10 gene SOX10 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurocristopathy;PCWH syndrome, MIM#609136;Complicated hereditary spastic paraplegia Neurodegeneration;HP:0002180 28534044 False 2 0;100;0 6.225 True ENSG00000100146 ENSG00000100146 HGNC:11190 SPTSSA gene SPTSSA Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 90B, autosomal recessive , MIM# 620417;Spastic paraplegia 90A, autosomal dominant, MIM# 620416 Neurodegeneration;HP:0002180 36718090;40533086 False 2 50;50;0 6.225 True ENSG00000165389 ENSG00000165389 HGNC:20361 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 6.225 True ENSG00000161011 ENSG00000161011 HGNC:11280 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;27554286;31362587;28490746;31859009;23942205 False 2 50;50;0 6.225 True ENSG00000161011 ENSG00000161011 HGNC:11280 SREBF2 gene SREBF2 Expert Review Amber;Literature;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related Neurodegeneration;HP:0002180 39814172 False 2 0;100;0 6.225 True ENSG00000198911 ENSG00000198911 HGNC:11290 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 6.225 True ENSG00000184402 ENSG00000184402 HGNC:15592 SVBP gene SVBP Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 94, autosomal recessive, MIM# 621150" Neurodegeneration;HP:0002180 39412222 False 2 0;100;0 6.225 True ENSG00000177868 ENSG00000177868 HGNC:29204 SYNGAP1 gene SYNGAP1 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant mental retardation 5, 612621 Neurodegeneration;HP:0002180 26989088 False 2 0;100;0 6.225 True ENSG00000197283 ENSG00000197283 HGNC:11497 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 6.225 True ENSG00000172660 ENSG00000270647 HGNC:11547 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 6.225 False ENSG00000172660 ENSG00000270647 HGNC:11547 TBCB gene TBCB Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382 Neurodegeneration;HP:0002180 PMID: 40856104 False 2 0;100;0 6.225 True ENSG00000105254 ENSG00000105254 HGNC:1989 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;39576382 False 2 0;100;0 6.225 True ENSG00000042088 ENSG00000042088 HGNC:18884 TENM4 gene TENM4 Literature;Expert Review Amber;Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tremor, hereditary essential, 5 MONDO:0014756 Neurodegeneration;HP:0002180 41449293;36689009;26188006;29249217;34589676;22915103 False 2 0;100;0 6.225 False ENSG00000149256 ENSG00000149256 HGNC:29945 THG1L gene THG1L Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800 Neurodegeneration;HP:0002180 27307223;30214071;31168944 False 2 0;100;0 6.225 True ENSG00000113272 ENSG00000113272 HGNC:26053 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 6.225 True ENSG00000116001 ENSG00000116001 HGNC:11802 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 6.225 True ENSG00000116001 ENSG00000116001 HGNC:11802 TMEM138 gene TMEM138 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 16, MIM# 614465" Neurodegeneration;HP:0002180 False 2 0;100;0 6.225 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM231 gene TMEM231 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;Meckel syndrome 11 615397 Neurodegeneration;HP:0002180 False 2 0;100;0 6.225 True ENSG00000205084 ENSG00000205084 HGNC:37234 TRPC3 gene TRPC3 GeneReviews;Royal Melbourne Hospital;Expert Review Amber;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 6.225 False ENSG00000138741 ENSG00000138741 HGNC:12335 UBA5 gene UBA5 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Autosomal recessive spinocerebellar ataxia 24, 617133;Early infantile epileptic encephalopathy 44, 617132 Neurodegeneration;HP:0002180 26872069;29902590 False 2 0;100;0 6.225 True ENSG00000081307 ENSG00000081307 HGNC:23230 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 6.225 False ENSG00000160803 ENSG00000160803 HGNC:1237 UBR4 gene UBR4 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Episodic ataxia;Episodic ataxia type 8, 616055 Neurodegeneration;HP:0002180 29062094;23982692;28600779 False 2 0;100;0 6.225 True ENSG00000127481 ENSG00000127481 HGNC:30313 UNC80 gene UNC80 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Neurodegeneration;HP:0002180 27513830 False 2 0;100;0 6.225 True ENSG00000144406 ENSG00000144406 HGNC:26582 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 50;50;0 6.225 True ENSG00000010256 ENSG00000010256 HGNC:12585 USP8 gene USP8 Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complicated hereditary spastic paraplegia Neurodegeneration;HP:0002180 24482476 False 2 0;100;0 6.225 True ENSG00000138592 ENSG00000138592 HGNC:12631 VAMP1 gene VAMP1 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic ataxia 1, autosomal dominant, MIM# 108600" Neurodegeneration;HP:0002180 22958904 False 2 0;100;0 6.225 True ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP1 gene VAMP1 Royal Melbourne Hospital;Expert Review Amber;Expert Review Amber 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 6.225 False ENSG00000139190 ENSG00000139190 HGNC:12642 VPS37A gene VPS37A Expert Review Amber;Royal Melbourne Hospital Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR Neurodegeneration;HP:0002180 22717650 False 2 0;100;0 6.225 True ENSG00000155975 ENSG00000155975 HGNC:24928 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 6.225 True ENSG00000100749 ENSG00000100749 HGNC:12718 VRK1 gene VRK1 Expert Review Amber;Expert list Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, 607596 Neurodegeneration;HP:0002180 19646678;21937992;25609612;24126608;27281532 False 2 0;100;0 6.225 True ENSG00000100749 ENSG00000100749 HGNC:12718 ZFYVE26 gene ZFYVE26 Royal Melbourne Hospital;Expert Review Amber;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 0;100;0 6.225 False ENSG00000072121 ENSG00000072121 HGNC:20761 THAP11_SCA51_CAG str THAP11 Literature;Expert Review Amber;Expert Review Amber;Literature Neurodegenerative disease - adult onset Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 51 MONDO:0975800 Neurodegeneration;HP:0002180 15368101;24677642;34165550;38113319;40459937;39651830;37148549 False 2 0;100;0 6.225 False ENSG00000168286 ENSG00000168286 HGNC:23194 16 67876766 67876853 67842863 67842950 CAG 39 47