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 Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome MIM#231550;complicated hereditary spastic paraplegia 30381913 False 2 0;100;0 3.352 True ENSG00000094914 ENSG00000094914 HGNC:13666 ACADVL gene ACADVL Expert Review Amber;Expert list;Expert Review Green;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "VLCAD deficiency 201475" PMID: 9546340;32558070;22097235;24305961 False 2 50;50;0 3.352 True ENSG00000072778 ENSG00000072778 HGNC:92 ACBD5 gene ACBD5 Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy;syndromic cleft palate;ataxia;retinal dystrophy 27799409;23105016 False 2 50;50;0 3.352 True ENSG00000107897 ENSG00000107897 HGNC:23338 ALG14 gene ALG14 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 30221345;23404334;28733338 False 2 50;50;0 3.352 True ENSG00000172339 ENSG00000172339 HGNC:28287 ALG14 gene ALG14 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myopathy MONDO:0019952 38982518;28733338 False 2 0;100;0 3.352 True ENSG00000172339 ENSG00000172339 HGNC:28287 ALG2 gene ALG2 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 23404334;24461433 False 2 0;100;0 3.352 True ENSG00000119523 ENSG00000119523 HGNC:23159 ALK gene ALK Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic-dystonic diplegia PMID: 32989326 False 2 0;100;0 3.352 True ENSG00000171094 ENSG00000171094 HGNC:427 ANG gene ANG Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel 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 3.352 True ENSG00000214274 ENSG00000214274 HGNC:483 ANXA11 gene ANXA11 Expert Review Amber;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 34048612 False 2 0;100;0 3.352 True ENSG00000122359 ENSG00000122359 HGNC:535 AP5Z1 gene AP5Z1 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 48, autosomal recessive, MIM# 613647" 26085577 False 2 0;100;0 3.352 True ENSG00000242802 ENSG00000242802 HGNC:22197 ARHGEF10 gene ARHGEF10 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Slowed nerve conduction velocity, AD, 608236;HMSN 14508709;21719701;25025039;25275565;25091364 False 2 50;50;0 3.352 True ENSG00000104728 ENSG00000104728 HGNC:14103 ARPC3 gene ARPC3 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease MONDO:0015626 36928819;26166300 False 2 0;100;0 3.352 True ENSG00000111229 ENSG00000111229 HGNC:706 ASPH gene ASPH Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exertional heat illness;malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related 35697689 False 2 50;50;0 3.352 True ENSG00000198363 ENSG00000198363 HGNC:757 ATG5 gene ATG5 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 25 16625204;26812546 False 2 0;100;0 3.352 True ENSG00000057663 ENSG00000057663 HGNC:589 ATM gene ATM Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, MIM#208900;Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated -fetoprotein;Ataxia-telangiectasia syndrome 32259893;20301790 False 2 0;50;50 3.352 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP2B3 gene ATP2B3 Expert Review Amber;Expert list;Expert Review Amber;Royal Melbourne Hospital;GeneReviews Neuromuscular Superpanel 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) Spinocerebellar ataxia, X-linked 1 False 2 0;100;0 3.352 True ENSG00000067842 ENSG00000067842 HGNC:816 ATP2B4 gene ATP2B4 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pure and complicated hereditary spastic paraplegia 29691679;25798335;25119969 False 2 0;100;0 3.352 True ENSG00000058668 ENSG00000058668 HGNC:817 B3GNT2 gene B3GNT2 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy 23359570;23877401 False 2 0;100;0 3.352 True ENSG00000170340 ENSG00000170340 HGNC:15629 B4GALNT1 gene B4GALNT1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive (MIM#609195;MONDO:0012213) 20301682;23746551 False 2 0;100;0 3.352 True ENSG00000135454 ENSG00000135454 HGNC:4117 BAG3 gene BAG3 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6 (MIM#612954;MONDO:0013061) 19085932 False 2 0;100;0 3.352 True ENSG00000151929 ENSG00000151929 HGNC:939 BET1 gene BET1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with rapid progression, MIM# 254100 34779586 False 2 0;100;0 3.352 True ENSG00000105829 ENSG00000105829 HGNC:14562 BICD2 gene BICD2 Expert Review Amber;Expert list Neuromuscular Superpanel 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 23664120;25497877;24482476 False 2 0;100;0 3.352 True ENSG00000185963 ENSG00000185963 HGNC:17208 C1orf194 gene C1orf194 Expert Review Amber;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, intermediate or demyelinating 31199454;32592472 False 2 0;100;0 3.352 True ENSG00000179902 ENSG00000179902 HGNC:32331 CAPN3 gene CAPN3 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, limb-girdle, autosomal recessive 1 253600" PMID: 31937337 False 2 50;50;0 3.352 True ENSG00000092529 ENSG00000092529 HGNC:1480 CASQ1 gene CASQ1 Expert Review Amber;Literature;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tubular aggregate myopathy MONDO:0008051 38982518 False 2 0;100;0 3.352 True Other ENSG00000143318 ENSG00000143318 HGNC:1512 CCDC78 gene CCDC78 Expert Review Amber;Other;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear Myopathy (MIM#614807;MONDO: 0018947) 22818856 False 2 0;100;0 3.352 True ENSG00000162004 ENSG00000162004 HGNC:14153 CCDC88C gene CCDC88C Expert Review Amber;Royal Melbourne Hospital;GeneReviews;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant spinocerebellar ataxia;?Spinocerebellar ataxia 40, 616053 25062847;30398676 False 2 33;67;0 3.352 True ENSG00000015133 ENSG00000015133 HGNC:19967 CCDC88C gene CCDC88C Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early-onset pure hereditary spastic paraplegia 33602173 False 2 0;100;0 3.352 True ENSG00000015133 ENSG00000015133 HGNC:19967 CCNF gene CCNF Expert Review Amber;Expert list Neuromuscular Superpanel 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 3.352 True ENSG00000162063 ENSG00000162063 HGNC:1591 CCT5 gene CCT5 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia, 256840;HMSN 16399879;25124038;25345891;33076433;37237456 False 2 0;100;0 3.352 True ENSG00000150753 ENSG00000150753 HGNC:1618 CHKB gene CHKB Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megaconial type congenital muscular dystrophy MONDO:0011246;CHKB-Related Muscular Dystrophy 37011121 False 2 50;50;0 3.352 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHKB gene CHKB Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megaconial type congenital muscular dystrophy MONDO:0011246;recurrent rhabdomyolysis;CHKB-Related Muscular Dystrophy 26782016;37011121;21665002;23692895;24997086 False 2 50;50;0 3.352 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHMP3 gene CHMP3 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related PMID: 35710109 False 2 0;100;0 3.352 True ENSG00000115561 ENSG00000115561 HGNC:29865 CHP1 gene CHP1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM #618438 29379881;32787936 False 2 50;50;0 3.352 True ENSG00000187446 ENSG00000187446 HGNC:17433 CHP1 gene CHP1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM #618438 29379881;32787936 False 2 50;50;0 3.352 True ENSG00000187446 ENSG00000187446 HGNC:17433 CHRNA1 gene CHRNA1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy MONDO:0019952 36634413;38982518 False 2 0;100;0 3.352 True ENSG00000138435 ENSG00000138435 HGNC:1955 CNTN1 gene CNTN1 Expert Review Amber;Other;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929;MIM#612540) 10926398 False 2 0;100;0 3.352 True ENSG00000018236 ENSG00000018236 HGNC:2171 COL4A1 gene COL4A1 Expert Review Green;Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773;Brain small vessel disease with or without ocular anomalies MIM#175780;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564 23065703;20818663;25719457;21625620;23225343 False 2 50;50;0 3.352 True Other ENSG00000187498 ENSG00000187498 HGNC:2202 COL9A2 gene COL9A2 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 2 MIM#600204" 20508815;20358595 False 2 0;100;0 3.352 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969" 10655510 False 2 0;100;0 3.352 True ENSG00000092758 ENSG00000092758 HGNC:2219 COMP gene COMP Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 1 MIM#132400" 20508815;14684695;15880723 False 2 0;100;0 3.352 True ENSG00000105664 ENSG00000105664 HGNC:2227 COX10 gene COX10 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046) 10767350 False 2 0;100;0 3.352 True ENSG00000006695 ENSG00000006695 HGNC:2260 CRYAB gene CRYAB Expert Review Green;Expert Review Amber;Expert list;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 2, MIM# 608810 PMID: 21337604;32420686 False 2 25;75;0 3.352 True ENSG00000109846 ENSG00000109846 HGNC:2389 CYLD gene CYLD Expert Review Amber;Literature;Victorian Clinical Genetics Services Neuromuscular Superpanel 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 3.352 True Other ENSG00000083799 ENSG00000083799 HGNC:2584 DCAF8 gene DCAF8 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Giant axonal neuropathy 2, autosomal dominant, 610100;HMSN 24500646 False 2 0;100;0 3.352 True ENSG00000132716 ENSG00000132716 HGNC:24891 DDHD1 gene DDHD1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy False 2 0;100;0 3.352 True ENSG00000100523 ENSG00000100523 HGNC:19714 DGAT2 gene DGAT2 Expert Review Amber;Expert Review Amber;Expert Review;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related 26786738 False 2 0;100;0 3.352 True ENSG00000062282 ENSG00000062282 HGNC:16940 DHTKD1 gene DHTKD1 Expert Review Green;Expert Review Amber;NHS GMS;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN;Charcot Marie Tooth disease, axonal, type 2Q, 615025;2 aminoadipic 2 oxoadipic aciduria, 204750 23141294;29661920;28902413 False 2 50;50;0 3.352 True ENSG00000181192 ENSG00000181192 HGNC:23537 DNAJC7 gene DNAJC7 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown amyotrophic lateral sclerosis 31768050 False 2 33;67;0 3.352 True ENSG00000168259 ENSG00000168259 HGNC:12392 DNMT3B gene DNMT3B Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral muscular dystrophy MONDO:0001347 27153398;33004076 False 2 50;50;0 3.352 True ENSG00000088305 ENSG00000088305 HGNC:2979 DPM2 gene DPM2 Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM# 615042 23109149 False 2 0;100;0 3.352 True ENSG00000136908 ENSG00000136908 HGNC:3006 DSTYK gene DSTYK Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 23, MIM#270750 28157540;23862974 False 2 0;100;0 3.352 True ENSG00000133059 ENSG00000133059 HGNC:29043 EMILIN1 gene EMILIN1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type X, MIM# 620080;Peripheral neuropathy;aortic aneurysm 31978608;26462740 False 2 50;50;0 3.352 True ENSG00000138080 ENSG00000138080 HGNC:19880 ERBB4 gene ERBB4 Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 19 MIM#615515 24119685;28889094 False 2 100;0;0 3.352 True ENSG00000178568 ENSG00000178568 HGNC:3432 ETFB gene ETFB Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB 231680 12815589;7912128 False 2 0;100;0 3.352 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIC 231680" PMID: 19592060;17412732 False 2 50;50;0 3.352 True ENSG00000171503 ENSG00000171503 HGNC:3483 EXOSC3 gene EXOSC3 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1b;Complicated hereditary spastic paraplegia 25149867;23975261 False 2 0;100;0 3.352 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC3 gene EXOSC3 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1b;dHMN/dSMA False 2 0;100;0 3.352 True ENSG00000107371 ENSG00000107371 HGNC:17944 FAM126A gene FAM126A Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV;Leukodystrophy, hypomyelinating, 5, 610532 False 2 0;0;100 3.352 True ENSG00000122591 ENSG00000122591 HGNC:24587 FBXO38 gene FBXO38 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type IID, 615575;dHMN/dSMA False 2 0;100;0 3.352 True ENSG00000145868 ENSG00000145868 HGNC:28844 FDX2 gene FDX2 Expert Review Amber;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900)" 30010796;24281368;28803783 False 2 0;100;0 3.352 True ENSG00000267673 ENSG00000267673 HGNC:30546 FDXR gene FDXR Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel 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 30250212;28965846;29040572;33348459;37046037;37481223 False 2 0;50;50 3.352 True ENSG00000161513 ENSG00000161513 HGNC:3642 FIG4 gene FIG4 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945;MIM#612577) False 2 100;0;0 3.352 True ENSG00000112367 ENSG00000112367 HGNC:16873 GALC gene GALC Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Krabbe Disease MIM#245200 20301416;21070211 False 2 0;100;0 3.352 True ENSG00000054983 ENSG00000054983 HGNC:4115 GJC2 gene GJC2 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2, 608804, AR;Spastic paraplegia 44, autosomal recessive 613206, AR 19056803;23684670 False 2 0;100;0 3.352 True ENSG00000198835 ENSG00000198835 HGNC:17494 GJC2 gene GJC2 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 44, autosomal recessive, MIM# 613206" 19056803;31431325;25059390 False 2 0;100;0 3.352 True ENSG00000198835 ENSG00000198835 HGNC:17494 GLT8D1 gene GLT8D1 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 30811981 False 2 50;50;0 3.352 True ENSG00000016864 ENSG00000016864 HGNC:24870 HADHB gene HADHB Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300 37388542;36063482;24664533 False 2 0;50;50 3.352 True ENSG00000138029 ENSG00000138029 HGNC:4803 HARS gene HARS Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal multisystem ataxic syndrome 32333447 False 2 33;67;0 3.352 True ENSG00000170445 ENSG00000170445 HGNC:4816 HNRNPA2B1 gene HNRNPA2B1 Expert Review Amber;ClinGen Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 25299611 False 2 0;0;100 3.352 True ENSG00000122566 ENSG00000122566 HGNC:5033 HRAS gene HRAS Expert Review Amber;Other;Expert Review Amber Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myopathy with excess of muscle spindles (MIM#218040) 17412879 False 2 0;100;0 3.352 True ENSG00000174775 ENSG00000174775 HGNC:5173 HSPD1 gene HSPD1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 13, autosomal dominant, MIM# 605280 26900593;11898127;17420924 False 2 0;100;0 3.352 True ENSG00000144381 ENSG00000144381 HGNC:5261 IRF2BPL gene IRF2BPL Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088" PMID: 30057031;30166628 False 2 0;100;0 3.352 True ENSG00000119669 ENSG00000119669 HGNC:14282 KARS gene KARS Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641;MONDO:0013338) 20920668 False 2 0;100;0 3.352 True ENSG00000065427 ENSG00000065427 HGNC:6215 KCNQ2 gene KCNQ2 Expert Review Amber;Expert list;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 7, 613720;Myokymia, 121200 22169383;20962009;10575255 False 2 33;67;0 3.352 True ENSG00000075043 ENSG00000075043 HGNC:6296 KLHL9 gene KLHL9 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy MONDO:0018949 20554658 False 2 0;100;0 3.352 True ENSG00000198642 ENSG00000198642 HGNC:18732 LAMP2 gene LAMP2 Expert Review Green;Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Neuromuscular Superpanel 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) Danon disease (MIM#300257) 27179547;22541782 False 2 50;50;0 3.352 True ENSG00000005893 ENSG00000005893 HGNC:6501 LGALSL gene LGALSL Expert Review Amber;ClinGen Neuromuscular Superpanel Neurology and neurodevelopmental disorders Unknown amyotrophic lateral sclerosis MONDO:0004976 30940688 False 2 0;100;0 3.352 True ENSG00000119862 ENSG00000119862 HGNC:25012 LMNA gene LMNA Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 2B1 , MIM#605588 11799477;28902413 False 2 0;100;0 3.352 True ENSG00000160789 ENSG00000160789 HGNC:6636 LMOD1 gene LMOD1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362 28292896 False 2 0;100;0 3.352 True ENSG00000163431 ENSG00000163431 HGNC:6647 LPIN1 gene LPIN1 Expert Review Green;Expert Review Amber;Expert Review;Expert Review Green;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) 28649549;18817903;32410653 False 2 67;33;0 3.352 True ENSG00000134324 ENSG00000134324 HGNC:13345 LRIF1 gene LRIF1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy MONDO:0001347 32467133 False 2 0;100;0 3.352 True ENSG00000121931 ENSG00000121931 HGNC:30299 LYST gene LYST Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;Spastic paraplegia;Chediak-Higashi syndrome, 214500 26307451;24521565 False 2 0;100;0 3.352 True ENSG00000143669 ENSG00000143669 HGNC:1968 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related 37503746 False 2 0;100;0 3.352 True ENSG00000165072 ENSG00000165072 HGNC:23673 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related 37503746 False 2 0;100;0 3.352 True ENSG00000165072 ENSG00000165072 HGNC:23673 MAPK8IP3 gene MAPK8IP3 Expert Review Amber;Literature;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 30612693;30945334 False 2 0;100;0 3.352 True ENSG00000138834 ENSG00000138834 HGNC:6884 MARS gene MARS Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 70, autosomal recessive, MIM# 620323 24482476;34585293 False 2 0;50;50 3.352 True ENSG00000166986 ENSG00000166986 HGNC:6898 MFF gene MFF Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086 26783368 False 2 0;0;100 3.352 True ENSG00000168958 ENSG00000168958 HGNC:24858 MKKS gene MKKS Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6, 605231 15637713 False 2 67;33;0 3.352 True ENSG00000125863 ENSG00000125863 HGNC:7108 MTCL1 gene MTCL1 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spinocerebellar ataxia 30548255;28283581 False 2 0;100;0 3.352 True ENSG00000168502 ENSG00000168502 HGNC:29121 MTMR14 gene MTMR14 Expert Review Amber;Other;Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Centronuclear myopathy, autosomal, modifier of} (MIM#160150) 20400459;20817957;19465920;17008356 False 2 0;100;0 3.352 True ENSG00000163719 ENSG00000163719 HGNC:26190 MTPAP gene MTPAP Expert Review Green;Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Ataxia, spastic, 4,;Autosomal recessive spastic ataxia 4, 613672 20970105;26319014;25008111 False 2 50;50;0 3.352 True ENSG00000107951 ENSG00000107951 HGNC:25532 MYL1 gene MYL1 Expert Review Amber;Other;NHS GMS Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 14 (MIM#618414) 30215711 False 2 0;100;0 3.352 True ENSG00000168530 ENSG00000168530 HGNC:7582 MYLK gene MYLK Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210 28602422 False 2 0;100;0 3.352 True ENSG00000065534 ENSG00000065534 HGNC:7590 MYO9A gene MYO9A Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome 24, presynaptic 618198 26752647;27259756 False 2 50;50;0 3.352 True ENSG00000066933 ENSG00000066933 HGNC:7608 MYO9B gene MYO9B Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related PMID: 36260368 False 2 0;100;0 3.352 True ENSG00000099331 ENSG00000099331 HGNC:7609 NAGLU gene NAGLU Expert Review Green;Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491;HSAN/SFN False 2 50;50;0 3.352 True ENSG00000108784 ENSG00000108784 HGNC:7632 NRG1 gene NRG1 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hirschsprung disease 22574178;21706185;28190554 False 2 0;100;0 3.352 True ENSG00000157168 ENSG00000157168 HGNC:7997 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, PACSIN3-related 38637313 False 2 0;100;0 3.352 True ENSG00000165912 ENSG00000165912 HGNC:8572 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, PACSIN3-related 38637313 False 2 0;100;0 3.352 True ENSG00000165912 ENSG00000165912 HGNC:8572 PCK2 gene PCK2 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy (MONDO#0005244), PCK2-related 36845668 False 2 0;33;67 3.352 True ENSG00000100889 ENSG00000100889 HGNC:8725 PDCL3 gene PDCL3 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megacystis-microcolon PMID: 32621347 False 2 0;100;0 3.352 True ENSG00000115539 ENSG00000115539 HGNC:28860 PFKM gene PFKM Expert Review Amber;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII (MIM#232800) 24427140;27066546;30792690 False 2 0;100;0 3.352 True ENSG00000152556 ENSG00000152556 HGNC:8877 PLD3 gene PLD3 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 46 30312375;30312384;29053796 False 2 0;100;0 3.352 False ENSG00000105223 ENSG00000105223 HGNC:17158 PLP1 gene PLP1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel 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) Pelizaeus-Merzbacher disease (MIM#312080) 20301361;11872612 False 2 0;100;0 3.352 True ENSG00000123560 ENSG00000123560 HGNC:9086 PMP2 gene PMP2 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN;Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 26257172;26828946;27009151 False 2 33;67;0 3.352 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000147588 ENSG00000147588 HGNC:9117 PNPLA6 gene PNPLA6 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 39, autosomal recessive, MIM# 612020" 18313024 False 2 0;100;0 3.352 True ENSG00000032444 ENSG00000032444 HGNC:16268 PNPT1 gene PNPT1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spinocerebellar ataxia 25, MIM# 608703" 35411967;37935417 False 2 50;50;0 3.352 True ENSG00000138035 ENSG00000138035 HGNC:23166 POGLUT1 gene POGLUT1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, MONDO:0020121, POGLUT1-related 33861953 False 2 0;100;0 3.352 True ENSG00000163389 ENSG00000163389 HGNC:22954 POMK gene POMK Expert Review Green;Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 24556084;24925318;29910097 False 2 50;50;0 3.352 True ENSG00000185900 ENSG00000185900 HGNC:26267 PREPL gene PREPL Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency;?Myasthenic syndrome, congenital, 22, 616224 29483676;28726805;24610330;27472506 False 2 0;100;0 3.352 True ENSG00000138078 ENSG00000138078 HGNC:30228 PRKCG gene PRKCG Expert Review Amber;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 14, MIM# 605361 34292398 False 2 0;100;0 3.352 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 Neuromuscular Superpanel 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 3.352 True ENSG00000135406 ENSG00000135406 HGNC:9461 PRPS1 gene PRPS1 Expert Review Amber;Literature Neuromuscular Superpanel 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 33898739;28967191 False 2 33;67;0 3.352 True ENSG00000147224 ENSG00000147224 HGNC:9462 PSMC3 gene PSMC3 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 32500975 False 2 0;100;0 3.352 True ENSG00000165916 ENSG00000165916 HGNC:9549 PYGM gene PYGM Expert Review Amber;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal McArdle disease (MIM#232600) 29143597;25914343 False 2 0;100;0 3.352 True ENSG00000068976 ENSG00000068976 HGNC:9726 RBM7 gene RBM7 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal SMA-like spinal motor neuropathy;dHMN/dSMA 27193168 False 2 0;100;0 3.352 True ENSG00000076053 ENSG00000076053 HGNC:9904 RFXANK gene RFXANK Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive Ataxia and Neurologic Regression;MHC class II deficiency, complementation group B MIM#209920 PMID: 33855173;23314770;28676232 False 2 50;50;0 3.352 True ENSG00000064490 ENSG00000064490 HGNC:9987 RNF13 gene RNF13 Expert Review Amber;Literature;Expert Review Green;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis PMID: 35879052 False 2 50;50;0 3.352 True ENSG00000082996 ENSG00000082996 HGNC:10057 SDHA gene SDHA Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 10976639;27683074 False 2 0;100;0 3.352 True ENSG00000073578 ENSG00000073578 HGNC:10680 SEC31A gene SEC31A Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651;congenital neurodevelopmental syndrome;spastic paraplegia;multiple contractures;profound developmental delay;epilepsy;failure to thrive" 30464055 False 2 0;100;0 3.352 True ENSG00000138674 ENSG00000138674 HGNC:17052 SELENOI gene SELENOI Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 81, autosomal recessive 618768;developmental delay;spasticity;periventricular white mater abnormalities;peripheral neuropathy;seizures;bifid uvula in some affected individuals 28052917;29500230 False 2 0;100;0 3.352 True ENSG00000138018 ENSG00000138018 HGNC:29361 SGO1 gene SGO1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chronic atrial and intestinal dysrhythmia, MIM# 616201 25282101 False 2 0;100;0 3.352 True ENSG00000129810 ENSG00000129810 HGNC:25088 SGPL1 gene SGPL1 Expert Review Amber;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal RENI syndrome (MIM#617575) 28077491;28165339;30274713;28165343 False 2 0;100;0 3.352 True ENSG00000166224 ENSG00000166224 HGNC:10817 SLC52A1 gene SLC52A1 Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Maternal riboflavin deficiency MONDO:0014013" 37510312;29122468;21089064 False 2 0;50;50 3.352 True ENSG00000132517 ENSG00000132517 HGNC:30225 SLC9A1 gene SLC9A1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Lichtenstein-Knorr Syndrome, MIM# 616291" 25205112;30018422;25760855 False 2 0;100;0 3.352 True ENSG00000090020 ENSG00000090020 HGNC:11071 SOX10 gene SOX10 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurocristopathy;PCWH syndrome, MIM#609136;Complicated hereditary spastic paraplegia 28534044 False 2 0;100;0 3.352 True ENSG00000100146 ENSG00000100146 HGNC:11190 SPTSSA gene SPTSSA Expert Review Amber;Literature Neuromuscular Superpanel 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 36718090 False 2 50;50;0 3.352 True ENSG00000165389 ENSG00000165389 HGNC:20361 SQSTM1 gene SQSTM1 Expert Review Amber;Literature;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myopathy, distal, with rimmed vacuoles MONDO:0014945;multisystem proteinopathy 29599744;26208961;29457785 False 2 33;33;33 3.352 True Other 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 Neuromuscular Superpanel 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 3.352 True ENSG00000161011 ENSG00000161011 HGNC:11280 SS18L1 gene SS18L1 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis (MONDO:0004976) 25888396;24360741;23708140;30976389 False 2 50;50;0 3.352 True ENSG00000184402 ENSG00000184402 HGNC:15592 SUCLA2 gene SUCLA2 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791;MIM#612073); Leigh -like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy 20301762;35235001 False 2 0;50;50 3.352 True ENSG00000136143 ENSG00000136143 HGNC:11448 SVIL gene SVIL Expert Review Amber;Other;Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10 (MIM#619040) 32779703 False 2 0;100;0 3.352 True ENSG00000197321 ENSG00000197321 HGNC:11480 SYNGAP1 gene SYNGAP1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant mental retardation 5, 612621 26989088 False 2 0;100;0 3.352 True ENSG00000197283 ENSG00000197283 HGNC:11497 TAF15 gene TAF15 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 21438137;22065782;27810362;28889094 False 2 0;100;0 3.352 True ENSG00000172660 ENSG00000270647 HGNC:11547 TDP1 gene TDP1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 31182267;12244316 False 2 0;100;0 3.352 True ENSG00000042088 ENSG00000042088 HGNC:18884 TDP1 gene TDP1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 31182267;12244316 False 2 0;100;0 3.352 True ENSG00000042088 ENSG00000042088 HGNC:18884 TIA1 gene TIA1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal distal myopathy, Welander type MONDO:0011466 23401021 False 2 0;100;0 3.352 True Other ENSG00000116001 ENSG00000116001 HGNC:11802 TIA1 gene TIA1 Expert Review Amber;Expert list Neuromuscular Superpanel 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 3.352 True ENSG00000116001 ENSG00000116001 HGNC:11802 TMEM138 gene TMEM138 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 16, MIM# 614465" False 2 0;100;0 3.352 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM231 gene TMEM231 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;Meckel syndrome 11 615397 False 2 0;100;0 3.352 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM43 gene TMEM43 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677 21391237;30311943 False 2 0;100;0 3.352 True ENSG00000170876 ENSG00000170876 HGNC:28472 TNNC2 gene TNNC2 Expert Review Amber;Other;Expert Review Green;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Myopathy 15 (MIM#62016) 33755597 False 2 50;50;0 3.352 True ENSG00000101470 ENSG00000101470 HGNC:11944 TNNT1 gene TNNT1 Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Nemaline myopathy 5, Amish type MIM#605355" 31970803 False 2 50;50;0 3.352 True ENSG00000105048 ENSG00000105048 HGNC:11948 TOR1AIP1 gene TOR1AIP1 Expert Review Amber;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome PMID: 34164833 False 2 0;100;0 3.352 True ENSG00000143337 ENSG00000143337 HGNC:29456 TRPC3 gene TRPC3 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 25477146;26112884 False 2 0;100;0 3.352 True ENSG00000138741 ENSG00000138741 HGNC:12335 TRPV1 gene TRPV1 Expert Review Amber;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exertional heat stroke;rhabdomyolysis 32471784 False 2 0;33;67 3.352 True ENSG00000196689 ENSG00000196689 HGNC:12716 TUBA4A gene TUBA4A Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital myopathy MONDO:0019952 PMID: 38413182 False 2 0;100;0 3.352 True ENSG00000127824 ENSG00000127824 HGNC:12407 TUBB4A gene TUBB4A Expert Review Amber;Expert list;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ataxia;Leukodystrophy, hypomyelinating, 612438 AD;Dystonia 4, torsion, autosomal dominant, 128101 23582646;24850488 False 2 0;100;0 3.352 True ENSG00000104833 ENSG00000104833 HGNC:20774 UBA5 gene UBA5 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy 32179706;26872069 False 2 0;100;0 3.352 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBA5 gene UBA5 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Autosomal recessive spinocerebellar ataxia 24, 617133;Early infantile epileptic encephalopathy 44, 617132 26872069;29902590 False 2 0;100;0 3.352 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBQLN4 gene UBQLN4 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 28463112;30804504 False 2 0;100;0 3.352 False ENSG00000160803 ENSG00000160803 HGNC:1237 UBR4 gene UBR4 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Episodic ataxia;Episodic ataxia type 8, 616055 29062094;23982692;28600779 False 2 0;100;0 3.352 True ENSG00000127481 ENSG00000127481 HGNC:30313 UNC80 gene UNC80 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 27513830 False 2 0;100;0 3.352 True ENSG00000144406 ENSG00000144406 HGNC:26582 USP8 gene USP8 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complicated hereditary spastic paraplegia 24482476 False 2 0;100;0 3.352 True ENSG00000138592 ENSG00000138592 HGNC:12631 VAMP1 gene VAMP1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic ataxia 1, autosomal dominant, 108600 22958904 False 2 0;100;0 3.352 True ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP1 gene VAMP1 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant spastic ataxia 1, 108600;Spastic ataxia 1, autosomal dominant, 108600 22958904 False 2 0;100;0 3.352 True ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP1 gene VAMP1 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic ataxia 1, autosomal dominant, MIM# 108600" 22958904 False 2 0;100;0 3.352 True ENSG00000139190 ENSG00000139190 HGNC:12642 VPS37A gene VPS37A Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR 22717650 False 2 0;100;0 3.352 True ENSG00000155975 ENSG00000155975 HGNC:24928 VRK1 gene VRK1 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, 607596 19646678;21937992;25609612;24126608;27281532 False 2 0;100;0 3.352 True ENSG00000100749 ENSG00000100749 HGNC:12718 VRK1 gene VRK1 Expert Review Amber;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel 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 3.352 True ENSG00000100749 ENSG00000100749 HGNC:12718 WARS gene WARS Expert Review Amber;Literature;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type IX, MIM#617721 28369220;31321409;31069783 False 2 67;33;0 3.352 True ENSG00000140105 ENSG00000140105 HGNC:12729 ZFYVE26 gene ZFYVE26 Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic paraplegia 15, 270700 24367272;18394578 False 2 50;50;0 3.352 True ENSG00000072121 ENSG00000072121 HGNC:20761 CANVAS_ACAGG str RFC1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome;fasciculations;elevated serum creatine kinase levels;denervation 33103729 False 2 0;100;0 3.352 True ENSG00000035928 ENSG00000035928 HGNC:9969 4 39350045 39350103 39348425 39348483 ACAGG 0 400 CANVAS_ACAGG str RFC1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome;fasciculations;elevated serum creatine kinase levels;denervation 33103729 False 2 0;100;0 3.352 True ENSG00000035928 ENSG00000035928 HGNC:9969 4 39350045 39350103 39348425 39348483 ACAGG 0 400