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 ClinGen;Expert Review Green Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ALS2-related motor neuron disease, MONDO:0100227 Motor neuron atrophy;HP:0007373 30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 28469040;29845112;30109997 False 3 100;0;0 2.11 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) Motor neuron atrophy;HP:0007373 26924529;28218388 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 16765570 False 3 100;0;0 2.11 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATP13A2 gene ATP13A2 Expert Review Green;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome MONDO:0011706 Motor neuron atrophy;HP:0007373 40028680;30992063 False 3 100;0;0 2.11 True ENSG00000159363 ENSG00000159363 HGNC:30213 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 Motor neuron atrophy;HP:0007373 16765570 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 False 3 100;0;0 2.11 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) Motor neuron atrophy;HP:0007373 20301378;16041373 False 3 100;0;0 2.11 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;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Perry syndrome, MONDO:0008201 Motor neuron atrophy;HP:0007373 20945553, 19136952, 24343258 False 3 100;0;0 2.11 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) Motor neuron atrophy;HP:0007373 False 3 100;0;0 2.11 True ENSG00000135924 ENSG00000135924 HGNC:5228 ERBB4 gene ERBB4 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 19 MIM#615515 Motor neuron atrophy;HP:0007373 24119685;28889094 False 3 100;0;0 2.11 True ENSG00000178568 ENSG00000178568 HGNC:3432 ERLIN2 gene ERLIN2 Expert Review Green;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal hereditary spastic paraplegia 18 MONDO:0012639 Motor neuron atrophy;HP:0007373 38607533;38427163;34734492;32042907 False 3 100;0;0 2.11 True ENSG00000147475 ENSG00000147475 HGNC:1356 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) Motor neuron atrophy;HP:0007373 19251628;19251627 False 3 100;0;0 2.11 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" Motor neuron atrophy;HP:0007373 20301758;26194201 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 18184915;23596077 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 31995250;31076878 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 31995250;24263030 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 23455423;34291734 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 29342275;30301576;29566793 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 19344878;24686783;35205163;34659085;34173818;26493020 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 31768050;26945885;27455347;29929116 False 3 100;0;0 2.11 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) Motor neuron atrophy;HP:0007373 20428114;31838784;27493188 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 False 3 67;33;0 2.11 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 Motor neuron atrophy;HP:0007373 23108492;22703882 False 3 100;0;0 2.11 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) Motor neuron atrophy;HP:0007373 15106121;9497266 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 False 3 67;33;0 2.11 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 Motor neuron atrophy;HP:0007373 False 3 100;0;0 2.11 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) Motor neuron atrophy;HP:0007373 26072523 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 20301623 False 3 100;0;0 2.11 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) Motor neuron atrophy;HP:0007373 8625408;21545237;16503123 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 16765570;19364936 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 20110243 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 16765570;19364936 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 34059824;35900868;34459874 False 3 100;0;0 2.11 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) Motor neuron atrophy;HP:0007373 20301761;18309045;19609911 False 3 100;0;0 2.11 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) Motor neuron atrophy;HP:0007373 20301623;25803835 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 25374358;25893256;28069311;38463699;38884572;26675813 False 3 50;50;0 2.11 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) Motor neuron atrophy;HP:0007373 20301623;21857683 False 3 100;0;0 2.11 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 Motor neuron atrophy;HP:0007373 20301623;15372378 False 3 100;0;0 2.11 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) Motor neuron atrophy;HP:0007373 20301649;20301623;21145000 False 3 100;0;0 2.11 True ENSG00000165280 ENSG00000165280 HGNC:12666 AR_SBMA_CAG 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 Motor neuron atrophy;HP:0007373 20301508;29325606 False 3 100;0;0 2.11 True ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545318 67545383 CAG 34 38 ATXN2_SCA2_CAG str ATXN2 Expert Review Green;Literature Motor Neurone Disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2 MIM#183090 Motor neuron atrophy;HP:0007373 20301452 False 3 100;0;0 2.11 True ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599016 CAG 31 35 C9orf72_FTDALS_GGGGCC 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 Motor neuron atrophy;HP:0007373 25577942;21944779;21944778 False 3 100;0;0 2.11 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" Motor neuron atrophy;HP:0007373 37339631 False 3 100;0;0 2.11 True ENSG00000147650 ENSG00000147650 HGNC:31708 8 105601201 105601227 104588973 104588999 CGG 50 61