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 4.430 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 4.430 True ENSG00000072778 ENSG00000072778 HGNC:92 ACTB gene ACTB Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1 (MIM#243310) 32588558;27625340 False 2 0;100;0 4.430 True ENSG00000075624 ENSG00000075624 HGNC:132 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 4.430 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 4.430 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 4.430 True ENSG00000122359 ENSG00000122359 HGNC:535 ARHGEF10 gene ARHGEF10 Royal Melbourne Hospital;Expert Review Amber;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 4.430 False ENSG00000104728 ENSG00000104728 HGNC:14103 ARPC3 gene ARPC3 Literature;Expert Review Amber;Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease MONDO:0015626 36928819;26166300;40011789 False 2 0;100;0 4.430 False ENSG00000111229 ENSG00000111229 HGNC:706 ARX gene ARX Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 1 308350;Hydranencephaly with abnormal genitalia 300215;Lissencephaly, X-linked 2 300215;Mental retardation, X-linked 29 and others 300419;Partington syndrome 309510;Proud syndrome 300004 21416597 False 2 0;100;0 4.430 True ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Farber lipogranulomatosis, MIM# 228000" 31022067 False 2 0;100;0 4.430 True ENSG00000104763 ENSG00000104763 HGNC:735 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 4.430 True ENSG00000198363 ENSG00000198363 HGNC:757 ATAD1 gene ATAD1 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hyperekplexia 4, MIM# 618011" 29659736;29390050;28180185 False 2 0;100;0 4.430 True ENSG00000138138 ENSG00000138138 HGNC:25903 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 4.430 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP2A2 gene ATP2A2 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital myopathy, MONDO:0019952, ATP2A2-related;{Rhabdomyolysis, susceptibility to, 2}, MIM# 621236 39970126 False 2 0;100;0 4.430 True ENSG00000174437 ENSG00000174437 HGNC:812 ATP2B4 gene ATP2B4 Royal Melbourne Hospital;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 4.430 False ENSG00000058668 ENSG00000058668 HGNC:817 ATRX gene ATRX Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Alpha-thalassemia/mental retardation syndrome, MIM# 301040 20301622 False 2 0;100;0 4.430 True ENSG00000085224 ENSG00000085224 HGNC:886 B3GALT6 gene B3GALT6 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Al-Gazali syndrome, OMIM #609465 PMID: 29443383, 25149931 False 2 0;100;0 4.430 True ENSG00000176022 ENSG00000176022 HGNC:17978 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 4.430 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 4.430 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 4.430 True ENSG00000151929 ENSG00000151929 HGNC:939 BBOX1 gene BBOX1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, MONDO:0017716, BBOX1-related 41022783 False 2 0;100;0 4.430 True ENSG00000129151 ENSG00000129151 HGNC:964 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 4.430 True ENSG00000105829 ENSG00000105829 HGNC:14562 BICD2 gene BICD2 Expert list;Expert Review Amber;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 4.430 False ENSG00000185963 ENSG00000185963 HGNC:17208 C1orf194 gene C1orf194 Literature;Literature;Expert Review Amber;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 4.430 False ENSG00000179902 ENSG00000179902 HGNC:32331 CACNB1 gene CACNB1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital muscular dystrophy MONDO:0020121, CACNB1-related 41023410 False 2 0;100;0 4.430 True ENSG00000067191 ENSG00000067191 HGNC:1401 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 4.430 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 4.430 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 4.430 True ENSG00000162004 ENSG00000162004 HGNC:14153 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 4.430 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 4.430 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 4.430 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 4.430 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 4.430 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 4.430 True ENSG00000115561 ENSG00000115561 HGNC:29865 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 4.430 True ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNE gene CHRNE Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome 4, MONDO:1040021 33193787 False 2 0;100;0 4.430 True ENSG00000108556 ENSG00000108556 HGNC:1966 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 4.430 True ENSG00000018236 ENSG00000018236 HGNC:2171 CNTN1 gene CNTN1 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 12, OMIM #612540 PMID:19026398 False 2 0;50;50 4.430 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 4.430 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 4.430 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 4.430 True ENSG00000092758 ENSG00000092758 HGNC:2219 COLQ gene COLQ Expert Review Amber;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5, MIM# 603034 9689136;9758617;11865139;32978031;31831253 False 2 0;100;0 4.430 True ENSG00000206561 ENSG00000206561 HGNC:2226 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 4.430 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 4.430 True ENSG00000006695 ENSG00000006695 HGNC:2260 CPT1C gene CPT1C Expert Review Amber;Royal Melbourne Hospital;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 73, autosomal dominant, MIM#616282;MONDO:0014568 25751282;30911584;30564185;23973755;41312619 False 2 50;50;0 4.430 True ENSG00000169169 ENSG00000169169 HGNC:18540 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 4.430 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 4.430 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 4.430 True ENSG00000132716 ENSG00000132716 HGNC:24891 DGAT2 gene DGAT2 Royal Melbourne Hospital;Expert Review;Expert Review Amber;Expert Review Amber;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 4.430 False ENSG00000062282 ENSG00000062282 HGNC:16940 DHTKD1 gene DHTKD1 NHS GMS;Expert Review Amber;Expert Review Green;Literature;Expert Review Amber Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012 23141294, 29661920, 28902413 False 2 0;100;0 4.430 False ENSG00000181192 ENSG00000181192 HGNC:23537 DNAJA3 gene DNAJA3 Expert Review Amber;Literature;Literature;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, DNAJA3-related 34750646;30770860;41354729 False 2 0;100;0 4.430 True ENSG00000103423 ENSG00000103423 HGNC:11808 DNAJC7 gene DNAJC7 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown amyotrophic lateral sclerosis 31768050;40802071;35039179;34233860;32897108;37870677;35456894 False 2 33;67;0 4.430 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 4.430 True ENSG00000088305 ENSG00000088305 HGNC:2979 DPM2 gene DPM2 Expert Review Amber;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 4.430 True ENSG00000136908 ENSG00000136908 HGNC:3006 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 4.430 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 4.430 True ENSG00000133059 ENSG00000133059 HGNC:29043 ELMSAN1 gene ELMSAN1 Expert Review Amber;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related False 2 0;100;0 4.430 True ENSG00000156030 ENSG00000156030 HGNC:19853 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 4.430 True ENSG00000138080 ENSG00000138080 HGNC:19880 ERBB3 gene ERBB3 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 2, MIM# 607598 17701904;31752936 False 2 0;100;0 4.430 True ENSG00000065361 ENSG00000065361 HGNC:3431 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 4.430 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 4.430 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 4.430 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 4.430 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 4.430 True ENSG00000122591 ENSG00000122591 HGNC:24587 FAM20C gene FAM20C Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Raine syndrome, MIM# 259775 False 2 0;100;0 4.430 True ENSG00000177706 ENSG00000177706 HGNC:22140 FBXO38 gene FBXO38 Royal Melbourne Hospital;Expert Review Amber;Expert Review Amber 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 4.430 False 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 4.430 True ENSG00000267673 ENSG00000267673 HGNC:30546 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 4.430 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 4.430 True ENSG00000054983 ENSG00000054983 HGNC:4115 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 4.430 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 4.430 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 4.430 True ENSG00000138029 ENSG00000138029 HGNC:4803 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 4.430 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 4.430 True ENSG00000174775 ENSG00000174775 HGNC:5173 HS2ST1 gene HS2ST1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194;Intellectual disability;dysmorphic features;congenital anomalies;arthrogryposis 33159882 False 2 0;100;0 4.430 True ENSG00000153936 ENSG00000153936 HGNC:5193 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 4.430 True ENSG00000119669 ENSG00000119669 HGNC:14282 ISLR2 gene ISLR2 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hydrocephalus;arthrogryposis;abdominal distension 30483960 False 2 0;0;0 4.430 True ENSG00000167178 ENSG00000167178 HGNC:29286 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 4.430 True ENSG00000065427 ENSG00000065427 HGNC:6215 KLHL9 gene KLHL9 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy MONDO:0018949 20554658;40818927;33458580 False 2 0;100;0 4.430 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 4.430 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 4.430 True ENSG00000119862 ENSG00000119862 HGNC:25012 LMNA gene LMNA Royal Melbourne Hospital;Expert Review Amber;Expert Review Amber 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 4.430 False 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 4.430 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 4.430 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 4.430 True ENSG00000121931 ENSG00000121931 HGNC:30299 LYST gene LYST Royal Melbourne Hospital;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 4.430 False ENSG00000143669 ENSG00000143669 HGNC:1968 MACF1 gene MACF1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome, MONDO:0018940, MACF1-related 37721175;30842214 False 2 0;100;0 4.430 True ENSG00000127603 ENSG00000127603 HGNC:13664 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 4.430 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 4.430 True ENSG00000165072 ENSG00000165072 HGNC:23673 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 4.430 True ENSG00000166986 ENSG00000166986 HGNC:6898 MET gene MET Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Arthrogryposis, distal, type 11 (MIM#620019), AD 30777867 False 2 33;67;0 4.430 True ENSG00000105976 ENSG00000105976 HGNC:7029 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 4.430 True ENSG00000168958 ENSG00000168958 HGNC:24858 MT-ATP8 gene MT-ATP8 Expert Review Amber;Expert list;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MITOCHONDRIAL Mitochondrial disease MONDO:0044970, MT-ATP8 related 24153443;20207608;32858252;33340416;32858252;19759059;22919063 False 2 0;100;0 4.430 True ENSG00000228253 ENSG00000228253 HGNC:7415 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 4.430 True ENSG00000163719 ENSG00000163719 HGNC:26190 MT-TC gene MT-TC Expert Review Amber;Expert list;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TC-related 8829635;9185178;17241783;11453453;16955414;32169613;36039763;17724295;35252560;34433719;30030363 False 2 0;100;0 4.430 True ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TC gene MT-TC Expert Review Amber;Expert list;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TC-related 8829635;9185178;17241783;11453453;16955414;32169613;36039763;17724295;35252560;34433719;30030363 False 2 0;100;0 4.430 True ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TQ gene MT-TQ Expert Review Amber;Expert list;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TQ-related 11171912;10996779;17003408;11335700 False 2 0;100;0 4.430 True ENSG00000210107 ENSG00000210107 HGNC:7495 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 4.430 True ENSG00000065534 ENSG00000065534 HGNC:7590 MYLPF gene MYLPF Expert Review Amber;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Distal arthrogryposis type 1C (DA1C), MIM#619110 32707087 False 2 50;50;0 4.430 True ENSG00000180209 ENSG00000180209 HGNC:29824 MYO9A gene MYO9A Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198 26752647;27259756 False 2 50;50;0 4.430 True ENSG00000066933 ENSG00000066933 HGNC:7608 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 4.430 True ENSG00000066933 ENSG00000066933 HGNC:7608 MYO9B gene MYO9B Literature;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;40382695 False 2 0;100;0 4.430 False ENSG00000099331 ENSG00000099331 HGNC:7609 NAGLU gene NAGLU Victorian Clinical Genetics Services;Royal Melbourne Hospital;Expert Review Amber;Expert Review Green;Expert Review Amber;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491;HSAN/SFN False 2 0;100;0 4.430 False 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 4.430 True ENSG00000157168 ENSG00000157168 HGNC:7997 NUBP2 gene NUBP2 Literature;Expert Review Amber;Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 39867373 False 2 0;100;0 4.430 False ENSG00000095906 ENSG00000095906 HGNC:8042 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 27, MIM# 621343 38637313 False 2 0;100;0 4.430 True ENSG00000165912 ENSG00000165912 HGNC:8572 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 27, MIM# 621343 38637313 False 2 0;100;0 4.430 True ENSG00000165912 ENSG00000165912 HGNC:8572 PCDHA9 gene PCDHA9 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal amyotrophic lateral sclerosis MONDO:0004976 38467605 False 2 0;100;0 4.430 True ENSG00000204961 ENSG00000204961 HGNC:8675 PCK2 gene PCK2 Literature;Expert Review Amber;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 4.430 False 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 4.430 True ENSG00000115539 ENSG00000115539 HGNC:28860 PEX11B gene PEX11B Expert Review Amber;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B - MIM#614920 20301621;22581968 False 2 50;50;0 4.430 True ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859 False 2 0;100;0 4.430 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883) False 2 0;100;0 4.430 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 False 2 0;100;0 4.430 True ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 False 2 0;100;0 4.430 True ENSG00000121680 ENSG00000121680 HGNC:8857 PEX2 gene PEX2 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866 False 2 0;100;0 4.430 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 False 2 0;100;0 4.430 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882 False 2 0;100;0 4.430 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110) False 2 0;100;0 4.430 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) False 2 0;100;0 4.430 True ENSG00000124587 ENSG00000124587 HGNC:8859 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 4.430 True ENSG00000152556 ENSG00000152556 HGNC:8877 PI4KA gene PI4KA Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531 PMID: 25855803 False 2 0;100;0 4.430 True ENSG00000241973 ENSG00000241973 HGNC:8983 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 4.430 True ENSG00000123560 ENSG00000123560 HGNC:9086 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 4.430 True ENSG00000032444 ENSG00000032444 HGNC:16268 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 4.430 True ENSG00000163389 ENSG00000163389 HGNC:22954 POMGNT2 gene POMGNT2 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135 False 2 0;100;0 4.430 True ENSG00000144647 ENSG00000144647 HGNC:25902 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 4.430 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 4.430 True ENSG00000138078 ENSG00000138078 HGNC:30228 PRPH gene PRPH Victorian Clinical Genetics Services;Expert Review Amber Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related 20363051;15322088;15446584;30992453;32638105 False 2 0;100;0 4.430 False ENSG00000135406 ENSG00000135406 HGNC:9461 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 4.430 True ENSG00000135406 ENSG00000135406 HGNC:9461 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 4.430 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 4.430 True ENSG00000068976 ENSG00000068976 HGNC:9726 RBMX gene RBMX Expert Review Amber;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related 39263607 False 2 0;100;0 4.430 True ENSG00000147274 ENSG00000147274 HGNC:9910 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 4.430 True ENSG00000082996 ENSG00000082996 HGNC:10057 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 4.430 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 4.430 True ENSG00000166224 ENSG00000166224 HGNC:10817 SLC18A3 gene SLC18A3 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 21, presynaptic, 617239;arthrogryposis 28188302;27590285;31059209 False 2 0;100;0 4.430 True ENSG00000187714 ENSG00000187714 HGNC:10936 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 4.430 True ENSG00000132517 ENSG00000132517 HGNC:30225 SLC9A6 gene SLC9A6 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 False 2 0;100;0 4.430 True ENSG00000198689 ENSG00000198689 HGNC:11079 SMAD3 gene SMAD3 Expert Review Amber;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3, MIM# 613795 False 2 0;100;0 4.430 True ENSG00000166949 ENSG00000166949 HGNC:6769 SMDT1 gene SMDT1 Expert Review Amber;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, SMDT1-related 37454773 False 2 0;100;0 4.430 True ENSG00000183172 ENSG00000183172 HGNC:25055 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 4.430 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;40533086 False 2 50;50;0 4.430 True ENSG00000165389 ENSG00000165389 HGNC:20361 SQSTM1 gene SQSTM1 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services 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 4.430 True ENSG00000161011 ENSG00000161011 HGNC:11280 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 4.430 True Other ENSG00000161011 ENSG00000161011 HGNC:11280 SREBF2 gene SREBF2 Expert Review Amber;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related 39814172 False 2 0;100;0 4.430 True ENSG00000198911 ENSG00000198911 HGNC:11290 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 4.430 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 4.430 True ENSG00000136143 ENSG00000136143 HGNC:11448 SVBP gene SVBP Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 94, autosomal recessive, MIM# 621150" 39412222 False 2 0;100;0 4.430 True ENSG00000177868 ENSG00000177868 HGNC:29204 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 4.430 True ENSG00000197321 ENSG00000197321 HGNC:11480 SVIL gene SVIL Expert Review Amber;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy, MIM#619040 32779703 False 2 0;100;0 4.430 True ENSG00000197321 ENSG00000197321 HGNC:11480 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 4.430 True ENSG00000172660 ENSG00000270647 HGNC:11547 TBCB gene TBCB Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382 PMID: 40856104 False 2 0;100;0 4.430 True ENSG00000105254 ENSG00000105254 HGNC:1989 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;39576382 False 2 0;100;0 4.430 True ENSG00000042088 ENSG00000042088 HGNC:18884 THOC2 gene THOC2 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Arthrogryposis (MONDO:0008779), THOC2-related PMID: 34976470;37945483 False 2 0;100;0 4.430 True ENSG00000125676 ENSG00000125676 HGNC:19073 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 4.430 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 4.430 True ENSG00000116001 ENSG00000116001 HGNC:11802 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 4.430 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 4.430 True ENSG00000101470 ENSG00000101470 HGNC:11944 TNNI1 gene TNNI1 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis MONDO:0008779, TNNI1-related 34934811 False 2 0;100;0 4.430 True ENSG00000159173 ENSG00000159173 HGNC:11945 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 4.430 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 4.430 True ENSG00000143337 ENSG00000143337 HGNC:29456 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 4.430 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 26, MIM# 621225 PMID: 38413182 False 2 0;100;0 4.430 True ENSG00000127824 ENSG00000127824 HGNC:12407 UBA5 gene UBA5 Literature;Expert Review Amber;Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy 32179706;26872069 False 2 0;100;0 4.430 False 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 4.430 False ENSG00000160803 ENSG00000160803 HGNC:1237 UNC50 gene UNC50 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita MONDO:0015168 29016857;33820833;40219868 False 2 0;100;0 4.430 True ENSG00000115446 ENSG00000115446 HGNC:16046 UNC50 gene UNC50 Expert Review Amber;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita MONDO:0015168;congenital myasthenic syndrome MONDO:0018940 33820833;29016857;40219868 False 2 0;100;0 4.430 True ENSG00000115446 ENSG00000115446 HGNC:16046 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 4.430 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 4.430 True ENSG00000138592 ENSG00000138592 HGNC:12631 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 4.430 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 4.430 True ENSG00000155975 ENSG00000155975 HGNC:24928 VRK1 gene VRK1 Expert Review Amber;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services 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 4.430 True ENSG00000100749 ENSG00000100749 HGNC:12718 VRK1 gene VRK1 Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia type 1A, OMIM# 607596" PMID: 21937992, 21937992 False 2 0;100;0 4.430 True ENSG00000100749 ENSG00000100749 HGNC:12718 WARS gene WARS Royal Melbourne Hospital;Literature;Expert Review Amber;Expert Review Amber;Literature 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 50;50;0 4.430 False ENSG00000140105 ENSG00000140105 HGNC:12729 ZBTB42 gene ZBTB42 Expert Review Amber;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 6, MIM# 616248 25055871 False 2 0;100;0 4.430 True ENSG00000179627 ENSG00000179627 HGNC:32550