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 ALS2 gene ALS2 Expert Review Green;Literature;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100;MONDO: MONDO:0008780) 24562058;11586298 False 3 100;0;0 1.27 True ENSG00000003393 ENSG00000003393 HGNC:443 ANXA11 gene ANXA11 Expert list;Expert Review Green Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amytrophic lateral sclerosis 23 MIM#617839 28469040;29845112;30109997 False 3 100;0;0 1.27 False ENSG00000122359 ENSG00000122359 HGNC:535 ASCC1 gene ASCC1 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807;MIM#616867) 26924529;28218388 False 3 100;0;0 1.27 True ENSG00000138303 ENSG00000138303 HGNC:24268 ATL1 gene ATL1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 3A, autosomal dominant MIM#182600 16765570 False 3 100;0;0 1.27 False ENSG00000198513 ENSG00000198513 HGNC:11231 BSCL2 gene BSCL2 Expert list;Expert Review Green Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Silver spastic paraplegia syndrome MIM#270685;Neuropathy, distal hereditary motor, type VA MIM#600794 16765570 False 3 100;0;0 1.27 False ENSG00000168000 ENSG00000168000 HGNC:15832 CHCHD10 gene CHCHD10 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders Unknown False 3 100;0;0 1.27 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHMP2B gene CHMP2B Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936) 20301378;16041373 False 3 100;0;0 1.27 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000083937 ENSG00000083937 HGNC:24537 DCTN1 gene DCTN1 Expert Review Amber;Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders Unknown False 3 100;0;0 1.27 False ENSG00000204843 ENSG00000204843 HGNC:2711 DNAJB2 gene DNAJB2 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881) False 3 100;0;0 1.27 True ENSG00000135924 ENSG00000135924 HGNC:5228 FUS gene FUS Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030) 19251628;19251627 False 3 100;0;0 1.27 True ENSG00000089280 ENSG00000089280 HGNC:4010 GBE1 gene GBE1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Polyglucosan body disease, adult form MIM#263570" 20301758;26194201 False 3 100;0;0 1.27 False ENSG00000114480 ENSG00000114480 HGNC:4180 GRN gene GRN ClinGen;Expert Review Green Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923 18184915;23596077 False 3 100;0;0 1.27 True ENSG00000030582 ENSG00000030582 HGNC:4601 HEXA gene HEXA Expert Review Green;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800 31995250;31076878 False 3 100;0;0 1.27 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Literature;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms MIM#268800 31995250;24263030 False 3 100;0;0 1.27 True ENSG00000049860 ENSG00000049860 HGNC:4879 HNRNPA1 gene HNRNPA1 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 20 MIM#615426 23455423;34291734 False 3 100;0;0 1.27 True ENSG00000135486 ENSG00000135486 HGNC:5031 KIF5A gene KIF5A Expert list;Expert Review Green;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921 29342275;30301576;29566793 False 3 100;0;0 1.27 False ENSG00000155980 ENSG00000155980 HGNC:6323 MATR3 gene MATR3 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 19344878;24686783;35205163;34659085;34173818;26493020 False 3 100;0;0 1.27 False ENSG00000015479 ENSG00000015479 HGNC:6912 NEK1 gene NEK1 Expert Review Green;Literature;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892 31768050;26945885;27455347;29929116 False 3 100;0;0 1.27 True ENSG00000137601 ENSG00000137601 HGNC:7744 OPTN gene OPTN Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435) 20428114;31838784;27493188 False 3 100;0;0 1.27 True ENSG00000123240 ENSG00000123240 HGNC:17142 PFN1 gene PFN1 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders Unknown False 3 67;33;0 1.27 False ENSG00000108518 ENSG00000108518 HGNC:8881 REEP1 gene REEP1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 31, autosomal dominant MIM#610250 23108492;22703882 False 3 100;0;0 1.27 True ENSG00000068615 ENSG00000068615 HGNC:25786 SETX gene SETX Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433) 15106121;9497266 False 3 100;0;0 1.27 True ENSG00000107290 ENSG00000107290 HGNC:445 SIGMAR1 gene SIGMAR1 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders Unknown False 3 67;33;0 1.27 False ENSG00000147955 ENSG00000147955 HGNC:8157 SLC52A2 gene SLC52A2 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders Unknown False 3 100;0;0 1.27 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amytrophic Lateral Sclerosis (ALS);Brown-Vialetto-van Laere syndrome 1 (MIM# 211530) 26072523 False 3 100;0;0 1.27 True ENSG00000101276 ENSG00000101276 HGNC:16187 SMN1 gene SMN1 Expert Review Green;Literature;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy-1, MIM# 253300 20301623 False 3 100;0;0 1.27 True ENSG00000172062 ENSG00000172062 HGNC:11117 SOD1 gene SOD1 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 1 (105400 AD, AR);Spastic tetraplegia and axial hypotonia, progressive (618598 AR) 8625408;21545237;16503123 False 3 100;0;0 1.27 True ENSG00000142168 ENSG00000142168 HGNC:11179 SPART gene SPART Expert list;Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders Unknown False 3 100;0;0 1.27 False ENSG00000133104 ENSG00000133104 HGNC:18514 SPAST gene SPAST Expert list;Expert Review Green Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 16765570;19364936 False 3 100;0;0 1.27 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPG11 gene SPG11 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099 20110243 False 3 100;0;0 1.27 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPG7 gene SPG7 Expert Review Green;Literature;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive MIM#607259 16765570;19364936 False 3 100;0;0 1.27 True ENSG00000197912 ENSG00000197912 HGNC:11237 SPTLC1 gene SPTLC1 Expert Review Green;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted juvenile amyotrophic lateral sclerosis MONDO:0017593 34059824;35900868;34459874 False 3 100;0;0 1.27 True Other ENSG00000090054 ENSG00000090054 HGNC:11277 TARDBP gene TARDBP Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 10, with or without FTD;Frontotemporal lobar degeneration, TARDBP-related (MIM#612069;MONDO: 0012790) 20301761;18309045;19609911 False 3 100;0;0 1.27 True ENSG00000120948 ENSG00000120948 HGNC:11571 TBK1 gene TBK1 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 4 (MIM#616439;MONDO:0011223) 20301623;25803835 False 3 100;0;0 1.27 True ENSG00000183735 ENSG00000183735 HGNC:11584 TUBA4A gene TUBA4A Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208 25374358;25893256;28069311;38463699;38884572;26675813 False 3 50;50;0 1.27 True ENSG00000127824 ENSG00000127824 HGNC:12407 UBQLN2 gene UBQLN2 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease 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) Amyotrophic lateral sclerosis type 15 (MONDO:0010459;MIM#300857) 20301623;21857683 False 3 100;0;0 1.27 True ENSG00000188021 ENSG00000188021 HGNC:12509 VAPB gene VAPB Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980);Amyotrophic lateral sclerosis 8 20301623;15372378 False 3 100;0;0 1.27 True ENSG00000124164 ENSG00000124164 HGNC:12649 VCP gene VCP Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954) 20301649;20301623;21145000 False 3 100;0;0 1.27 True ENSG00000165280 ENSG00000165280 HGNC:12666 ANG gene ANG Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753;MIM#611895) 17886298;16501576;18087731;20301623 False 2 100;0;0 1.27 True ENSG00000214274 ENSG00000214274 HGNC:483 CCNF gene CCNF Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 29102476;31577344;27080313;28105640;31445393;28852778 False 2 0;100;0 1.27 True ENSG00000162063 ENSG00000162063 HGNC:1591 CYLD gene CYLD Expert Review Amber;Literature;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 32666117;32666099;32185393 False 2 25;50;25 1.27 True Other ENSG00000083799 ENSG00000083799 HGNC:2584 DNAJC7 gene DNAJC7 Expert Review Amber;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown amyotrophic lateral sclerosis 31768050 False 2 33;67;0 1.27 True ENSG00000168259 ENSG00000168259 HGNC:12392 ERBB4 gene ERBB4 Expert list;Expert Review Amber;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 19 MIM#615515 24119685;28889094 False 2 100;0;0 1.27 True ENSG00000178568 ENSG00000178568 HGNC:3432 FIG4 gene FIG4 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945;MIM#612577) False 2 100;0;0 1.27 True ENSG00000112367 ENSG00000112367 HGNC:16873 GLT8D1 gene GLT8D1 Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 30811981 False 2 50;50;0 1.27 True ENSG00000016864 ENSG00000016864 HGNC:24870 HNRNPA2B1 gene HNRNPA2B1 ClinGen;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 25299611 False 2 0;0;100 1.27 True ENSG00000122566 ENSG00000122566 HGNC:5033 LGALSL gene LGALSL ClinGen;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders Unknown amyotrophic lateral sclerosis MONDO:0004976 30940688 False 2 0;100;0 1.27 True ENSG00000119862 ENSG00000119862 HGNC:25012 PRPH gene PRPH Expert list;Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Amyotrophic lateral sclerosis, susceptibility to}, 105400 20363051;15322088;15446584 False 2 0;100;0 1.27 True ENSG00000135406 ENSG00000135406 HGNC:9461 RNF13 gene RNF13 Expert Review Amber;Expert Review Green;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis PMID: 35879052 False 2 50;50;0 1.27 True ENSG00000082996 ENSG00000082996 HGNC:10057 SQSTM1 gene SQSTM1 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640" False 2 100;0;0 1.27 True ENSG00000161011 ENSG00000161011 HGNC:11280 SS18L1 gene SS18L1 Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis (MONDO:0004976) 25888396;24360741;23708140;30976389 False 2 50;50;0 1.27 True ENSG00000184402 ENSG00000184402 HGNC:15592 TAF15 gene TAF15 Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 21438137;22065782;27810362;28889094 False 2 0;100;0 1.27 True ENSG00000172660 ENSG00000270647 HGNC:11547 TIA1 gene TIA1 Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133" 29235362;29886022;29773329;29699721;29216908;24659297;29457785;28817800 False 2 0;100;0 1.27 True ENSG00000116001 ENSG00000116001 HGNC:11802 UBQLN4 gene UBQLN4 Expert list;Expert Review Amber Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 28463112;30804504 False 2 0;100;0 1.27 False ENSG00000160803 ENSG00000160803 HGNC:1237 VRK1 gene VRK1 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia;Distal hereditary motor neuropathy;dHMN/dSMA 31560180;32242460;31178479;31837156;30847374;34169149;26583493 False 2 0;50;50 1.27 True ENSG00000100749 ENSG00000100749 HGNC:12718 AIFM1 gene AIFM1 Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders Unknown False 1 50;0;50 1.27 False ENSG00000156709 ENSG00000156709 HGNC:8768 ARPP21 gene ARPP21 ClinGen Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 30811981;31653410;35525134 False 1 0;0;100 1.27 False ENSG00000172995 ENSG00000172995 HGNC:16968 ASAH1 gene ASAH1 Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 False 1 50;0;50 1.27 True ENSG00000104763 ENSG00000104763 HGNC:735 ATP7A gene ATP7A Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, distal, X-linked 3, 300489 False 1 67;0;33 1.27 True ENSG00000165240 ENSG00000165240 HGNC:869 BICD2 gene BICD2 Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease 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 False 1 67;0;33 1.27 True ENSG00000185963 ENSG00000185963 HGNC:17208 DAO gene DAO Expert list;Expert Review Red Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis 29274788;29895397;20368421;29194436 False 1 0;0;100 1.27 True ENSG00000110887 ENSG00000110887 HGNC:2671 DYNC1H1 gene DYNC1H1 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600 False 1 50;0;50 1.27 True ENSG00000197102 ENSG00000197102 HGNC:2961 ERLIN1 gene ERLIN1 Expert list;Expert Review Red Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 29453415 False 1 0;0;100 1.27 True ENSG00000107566 ENSG00000107566 HGNC:16947 EWSR1 gene EWSR1 Expert list;Expert Review Red Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 29731676;22454397 False 1 0;100;0 1.27 True ENSG00000182944 ENSG00000182944 HGNC:3508 EXOSC8 gene EXOSC8 Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, MIM# 616081 24989451 False 1 0;0;100 1.27 True ENSG00000120699 ENSG00000120699 HGNC:17035 GNE gene GNE Expert list;Expert Review Green;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 29086072 False 1 50;0;50 1.27 False ENSG00000159921 ENSG00000159921 HGNC:23657 IGHMBP2 gene IGHMBP2 Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VI 604320 False 1 50;0;50 1.27 True ENSG00000132740 ENSG00000132740 HGNC:5542 LAS1L gene LAS1L Expert list;Expert Review Green;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females congenital lethal motor neuron disease 24647030 False 1 50;0;50 1.27 True ENSG00000001497 ENSG00000001497 HGNC:25726 NEFH gene NEFH ClinGen;Expert Review Red Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 False 1 0;0;100 1.27 True ENSG00000100285 ENSG00000100285 HGNC:7737 PLEKHG5 gene PLEKHG5 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 17564964 False 1 0;0;100 1.27 True ENSG00000171680 ENSG00000171680 HGNC:29105 SLC52A1 gene SLC52A1 Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency, MIM#615026 29122468;17689999 False 1 0;0;100 1.27 True ENSG00000132517 ENSG00000132517 HGNC:30225 TRIP4 gene TRIP4 Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 26924529 False 1 0;0;100 1.27 True ENSG00000103671 ENSG00000103671 HGNC:12310 TRPV4 gene TRPV4 Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, distal, congenital nonprogressive, 600175 False 1 50;0;50 1.27 True ENSG00000111199 ENSG00000111199 HGNC:18083 UBA1 gene UBA1 Expert list;Expert Review Green;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services Motor Neurone Disease Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 18179898;32181232;31932168;29034082;27699224;26028276;23518311 False 1 50;0;50 1.27 True ENSG00000130985 ENSG00000130985 HGNC:12469 FTDALS str C9orf72 Expert Review Green;Expert list Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 25577942;21944779;21944778 False 3 100;0;0 1.27 True ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573427 27573544 27573529 27573546 GGGGCC 25 60 LRP12-ALS_CGG str LRP12 Expert Review Green;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Amyotrophic lateral sclerosis MONDO:0004976;Amyotrophic lateral sclerosis 28, MIM# 620452" 37339631 False 3 100;0;0 1.27 True ENSG00000147650 ENSG00000147650 HGNC:31708 8 105601201 105601227 104588973 104588999 CGG 50 61 SBMA str AR Expert Review Green;Expert list Motor Neurone Disease Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal and bulbar muscular atrophy of Kennedy MIM#313200 20301508;29325606 False 3 100;0;0 1.27 True ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545318 67545383 CAG 34 38 SCA2 str ATXN2 Expert Review Green;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2 MIM#183090 20301452 False 3 100;0;0 1.27 True ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599016 CAG 31 35