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 ACOX1 gene ACOX1 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudoneonatal adrenoleukodystrophy 18536048 False 1 0;0;100 4.430 True ENSG00000161533 ENSG00000161533 HGNC:119 AIFM1 gene AIFM1 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders Unknown False 1 50;0;50 4.430 False ENSG00000156709 ENSG00000156709 HGNC:8768 AMACR gene AMACR Expert Review Green;Expert Review Red;Literature;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis 20921516 False 1 50;0;50 4.430 True ENSG00000242110 ENSG00000242110 HGNC:451 AMPD1 gene AMPD1 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy due to myoadenylate deaminase deficiency 615511;Rhabdomyolysis False 1 0;0;100 4.430 True ENSG00000116748 ENSG00000116748 HGNC:468 AMPD2 gene AMPD2 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI 27066553 False 1 0;0;100 4.430 True ENSG00000116337 ENSG00000116337 HGNC:469 AMPD2 gene AMPD2 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 63 MIM#615686 24482476;30089829;29463858 False 1 0;0;100 4.430 True ENSG00000116337 ENSG00000116337 HGNC:469 AP1S2 gene AP1S2 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pettigrew syndrome, MIM# 304340 30714330 False 1 0;0;100 4.430 True ENSG00000182287 ENSG00000182287 HGNC:560 ARPP21 gene ARPP21 ClinGen Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 30811981;31653410;35525134 False 1 0;0;100 4.430 False ENSG00000172995 ENSG00000172995 HGNC:16968 ARSI gene ARSI Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood onset spastic paraplegia 24482476 False 1 0;0;100 4.430 True ENSG00000183876 ENSG00000183876 HGNC:32521 ASAH1 gene ASAH1 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 False 1 50;0;50 4.430 True ENSG00000104763 ENSG00000104763 HGNC:735 ATP1A1 gene ATP1A1 Expert Review Red;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary spastic paraplegia 31705535 False 1 0;0;100 4.430 True ENSG00000163399 ENSG00000163399 HGNC:799 ATP1A2 gene ATP1A2 Expert Review Red;Expert list;Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalaemic periodic paralysis 30423015 False 1 0;0;100 4.430 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP7A gene ATP7A Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, distal, X-linked 3, 300489 False 1 67;0;33 4.430 True ENSG00000165240 ENSG00000165240 HGNC:869 B3GALNT2 gene B3GALNT2 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders Unknown Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 False 1 0;0;100 4.430 True ENSG00000162885 ENSG00000162885 HGNC:28596 B3GNT2 gene B3GNT2 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy 23359570;23877401 False 1 0;0;100 4.430 True ENSG00000170340 ENSG00000170340 HGNC:15629 B3GNT4 gene B3GNT4 Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary neurological disease, MONDO:0100545, B3GNT4-related 41444428 False 1 0;0;100 4.430 False ENSG00000176383 ENSG00000176383 HGNC:15683 B3GNT4 gene B3GNT4 Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary neurological disease, MONDO:0100545, B3GNT4-related 41444428 False 1 0;0;100 4.430 False ENSG00000176383 ENSG00000176383 HGNC:15683 B4GAT1 gene B4GAT1 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287 23359570;23877401;23359570;23217742 False 1 50;0;50 4.430 True ENSG00000174684 ENSG00000174684 HGNC:15685 BANF1 gene BANF1 Literature;Expert Review Red;Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related 36980188 False 1 0;0;100 4.430 False ENSG00000175334 ENSG00000175334 HGNC:17397 BICD2 gene BICD2 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 False 1 67;0;33 4.430 True ENSG00000185963 ENSG00000185963 HGNC:17208 CACNB1 gene CACNB1 Expert Review Red;Expert list;Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders ?Malignant hyperthermia susceptibility 27832566;8943043;29212769 False 1 0;0;100 4.430 True ENSG00000067191 ENSG00000067191 HGNC:1401 CAMLG gene CAMLG Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type IIz, OMIM #: 620201 35262690 False 1 0;0;100 4.430 True ENSG00000164615 ENSG00000164615 HGNC:1471 CASK gene CASK Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females FG syndrome 4, MIM# 300422;Mental retardation, with or without nystagmus, MIM# 300422 24278995 False 1 0;0;100 4.430 True ENSG00000147044 ENSG00000147044 HGNC:1497 CASQ1 gene CASQ1 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231 False 1 0;0;100 4.430 True ENSG00000143318 ENSG00000143318 HGNC:1512 CCT5 gene CCT5 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia;Sensory Neuropathy with Spastic Paraplegia 16399879 False 1 0;0;100 4.430 True ENSG00000150753 ENSG00000150753 HGNC:1618 CHD8 gene CHD8 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Complex neurodevelopmental disorder MONDO:0100038" 20301347;32267004;36835142 False 1 0;50;50 4.430 True ENSG00000100888 ENSG00000100888 HGNC:20153 CHRND gene CHRND Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital myopathy MONDO:0019952 38982518 False 1 0;0;100 4.430 True ENSG00000135902 ENSG00000135902 HGNC:1965 CLPP gene CLPP Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3 MIM#614129 22037954 False 1 0;0;100 4.430 True ENSG00000125656 ENSG00000125656 HGNC:2084 COG8 gene COG8 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIh 611182" PMID: 30690882 False 1 0;0;100 4.430 True ENSG00000213380 ENSG00000213380 HGNC:18623 COL4A1 gene COL4A1 Expert Review Green;Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Recurrent rhabdomyolysis;infections;hypertrophic cardiomyopathy. 31540749 False 1 50;25;25 4.430 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review Green;Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Brain small vessel disease 2 614483" PMID: 25719457;30315939 False 1 50;0;50 4.430 True Other ENSG00000134871 ENSG00000134871 HGNC:2203 DAG1 gene DAG1 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders Unknown Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538) False 1 0;0;100 4.430 True ENSG00000173402 ENSG00000173402 HGNC:2666 DAO gene DAO Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis 29274788;29895397;20368421;29194436 False 1 0;0;100 4.430 True ENSG00000110887 ENSG00000110887 HGNC:2671 DCX gene DCX Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lissencephaly, X-linked, MIM# 300067 20301364 False 1 0;0;100 4.430 True ENSG00000077279 ENSG00000077279 HGNC:2714 DNM2 gene DNM2 Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complicated hereditary spastic paraplegia 26517984 False 1 0;0;100 4.430 False ENSG00000079805 ENSG00000079805 HGNC:2974 DNM2 gene DNM2 Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 5, MIM# 615368 23092955 False 1 0;0;100 4.430 True ENSG00000079805 ENSG00000079805 HGNC:2974 DYNC1H1 gene DYNC1H1 Expert Review Red;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600 False 1 50;0;50 4.430 True ENSG00000197102 ENSG00000197102 HGNC:2961 ECE1 gene ECE1 Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870 9915973 False 1 0;0;100 4.430 True ENSG00000117298 ENSG00000117298 HGNC:3146 EIF2S3 gene EIF2S3 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, MIM# 300148 23063529;27333055;28055140 False 1 0;0;100 4.430 True ENSG00000130741 ENSG00000130741 HGNC:3267 ERLIN1 gene ERLIN1 Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 29453415 False 1 0;0;100 4.430 True ENSG00000107566 ENSG00000107566 HGNC:16947 EWSR1 gene EWSR1 Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 29731676;22454397 False 1 0;100;0 4.430 True ENSG00000182944 ENSG00000182944 HGNC:3508 EXOSC3 gene EXOSC3 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, MIM# 614678 23284067 False 1 0;0;100 4.430 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC3 gene EXOSC3 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myopathy MONDO:0019952 30025162;38982518 False 1 0;0;100 4.430 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC8 gene EXOSC8 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, MIM# 616081 24989451 False 1 0;0;100 4.430 True ENSG00000120699 ENSG00000120699 HGNC:17035 FGD1 gene FGD1 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Aarskog-Scott syndrome, MIM# 305400;Mental retardation, X-linked syndromic 16, MIM# 305400 27551683 False 1 0;0;100 4.430 True ENSG00000102302 ENSG00000102302 HGNC:3663 FGFR3 gene FGFR3 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 4.430 True ENSG00000068078 ENSG00000068078 HGNC:3690 FHL1 gene FHL1 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696;Myopathy, X-linked, with postural muscle atrophy, MIM# 300696;Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717;Reducing body myopathy, X-linked 1b, with late childhood or adult onset, MIM# 300718;Scapuloperoneal myopathy, X-linked dominant, MIM# 300695 False 1 0;0;100 4.430 True ENSG00000022267 ENSG00000022267 HGNC:3702 FKTN gene FKTN Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Fukuyama congenital muscular dystrophy False 1 0;0;100 4.430 True ENSG00000106692 ENSG00000106692 HGNC:3622 FOXG1 gene FOXG1 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rett syndrome False 1 0;0;100 4.430 True ENSG00000176165 ENSG00000176165 HGNC:3811 FOXK2 gene FOXK2 Expert Review Red;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, MONDO:0005336, FOXK2-related 40410591 False 1 0;0;100 4.430 True ENSG00000141568 ENSG00000141568 HGNC:6036 FOXP3 gene FOXP3 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females congenital myopathy MONDO:0019952 38982518 False 1 0;0;100 4.430 True ENSG00000049768 ENSG00000049768 HGNC:6106 GAD1 gene GAD1 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebralpalsy, spasticquadriplegic,1, 603513 15571623 False 1 0;0;100 4.430 True ENSG00000128683 ENSG00000128683 HGNC:4092 GDNF gene GDNF Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hirschsprung disease, susceptibility to, 3} MIM#613711 18276829;8896568;8657308;11973622 False 1 0;0;100 4.430 True ENSG00000168621 ENSG00000168621 HGNC:4232 GJB3 gene GJB3 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders HMSN;erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy False 1 0;0;100 4.430 True ENSG00000188910 ENSG00000188910 HGNC:4285 GNE gene GNE Expert Review Green;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 29086072 False 1 50;0;50 4.430 False ENSG00000159921 ENSG00000159921 HGNC:23657 GPC3 gene GPC3 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 20301398 False 1 0;0;100 4.430 True ENSG00000147257 ENSG00000147257 HGNC:4451 GRID2 gene GRID2 Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complicated spastic paraplegia 24122788 False 1 0;0;100 4.430 True ENSG00000152208 ENSG00000152208 HGNC:4576 HARS2 gene HARS2 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM#614926 False 1 0;0;100 4.430 True ENSG00000112855 ENSG00000112855 HGNC:4817 HSPB3 gene HSPB3 Royal Melbourne Hospital;Expert Review Red;Expert Review Red Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HMSN, dHMN/dSMA;?Neuronopathy, distal hereditary motor, type IIC, 613376 20142617;27549087 False 1 0;0;100 4.430 False ENSG00000169271 ENSG00000169271 HGNC:5248 IDUA gene IDUA Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myopathy MONDO:0019952 38982518 False 1 0;0;100 4.430 True ENSG00000127415 ENSG00000127415 HGNC:5391 IFRD1 gene IFRD1 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary spastic paraplegia MONDO:0019064, IFRD1-related 29362493 False 1 0;0;100 4.430 True ENSG00000006652 ENSG00000006652 HGNC:5456 IFRD1 gene IFRD1 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary spastic paraplegia MONDO:0019064, IFRD1-related 29362493;19409521 False 1 0;0;100 4.430 True ENSG00000006652 ENSG00000006652 HGNC:5456 IGHMBP2 gene IGHMBP2 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VI 604320 False 1 50;0;50 4.430 True ENSG00000132740 ENSG00000132740 HGNC:5542 IQGAP3 gene IQGAP3 Literature;Expert Review Red;Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary neuropathy 32341455 False 1 0;0;100 4.430 False ENSG00000183856 ENSG00000183856 HGNC:20669 KCNE3 gene KCNE3 Expert Review Red;Expert list;Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periodic paralysis 14504341;11207363;16449802;15037716;20051516;28356343 False 1 0;0;100 4.430 True ENSG00000175538 ENSG00000175538 HGNC:6243 KCNJ11 gene KCNJ11 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820 False 1 50;0;50 4.430 True ENSG00000187486 ENSG00000187486 HGNC:6257 KCNJ18 gene KCNJ18 Expert Review Red;Expert list;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalemic periodic paralysis;{Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239 25882930;27178871;20074522;27008341 False 1 0;0;100 4.430 True - ENSG00000260458 HGNC:39080 KCNJ5 gene KCNJ5 Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Andersen-Tawil Syndrome;periodic muscle paralysis 24574546 False 1 0;0;100 4.430 True ENSG00000120457 ENSG00000120457 HGNC:6266 KIF1B gene KIF1B Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, type 2A1, 118210;HMSN 11389829;30126838;25802885 False 1 0;33;67 4.430 False ENSG00000054523 ENSG00000054523 HGNC:16636 KIF26B gene KIF26B Expert Review Red;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple congenital anomalies MONDO:0019042, KIF26B-related 30151950 False 1 0;0;100 4.430 True ENSG00000162849 ENSG00000162849 HGNC:25484 KLC4 gene KLC4 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129 26423925 False 1 0;0;100 4.430 True ENSG00000137171 ENSG00000137171 HGNC:21624 KLHL13 gene KLHL13 Royal Melbourne Hospital;Expert Review Red;Expert Review;Expert Review Red;Expert Review Red;Expert Review;Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females HMSN 24627108 False 1 0;0;100 4.430 False ENSG00000003096 ENSG00000003096 HGNC:22931 L1CAM gene L1CAM Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hydrocephalus due to aqueductal stenosis 307000 31504653 False 1 0;0;100 4.430 True ENSG00000198910 ENSG00000198910 HGNC:6470 LAMA5 gene LAMA5 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Presynaptic congenital myasthenic syndrome 28544784;29377152 False 1 0;0;100 4.430 True ENSG00000130702 ENSG00000130702 HGNC:6485 LAMB2 gene LAMB2 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pierson syndrome, MIM# 609049;congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations 19251977 False 1 0;0;100 4.430 True ENSG00000172037 ENSG00000172037 HGNC:6487 LARS2 gene LARS2 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4 MIM#615300 False 1 0;0;100 4.430 True ENSG00000011376 ENSG00000011376 HGNC:17095 LAS1L gene LAS1L Expert Review Green;Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females congenital lethal motor neuron disease 24647030 False 1 50;0;50 4.430 True ENSG00000001497 ENSG00000001497 HGNC:25726 LAS1L gene LAS1L Expert Review;Expert Review Red;Expert Review Green;Expert Review Red;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females congenital lethal motor neuron disease 24647030 False 1 0;0;100 4.430 False ENSG00000001497 ENSG00000001497 HGNC:25726 MARS gene MARS Royal Melbourne Hospital;Expert Review Red;Expert Review Red Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN;Charcot-Marie-Tooth disease, axonal, type 2U, 616280 23729695;24354524;29655802 False 1 0;50;50 4.430 False ENSG00000166986 ENSG00000166986 HGNC:6898 MED25 gene MED25 Victorian Clinical Genetics Services;Expert list;Expert Review Red;Expert Review Green;Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Charcot-Marie-Tooth disease, type 2B2 MIM#605589" 19290556;30039206 False 1 0;0;100 4.430 False ENSG00000104973 ENSG00000104973 HGNC:28845 MIR145 gene MIR145 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown multisystemic smooth muscle dysfunction syndrome (MONDO:0013452) 36649075 False 1 0;0;100 4.430 True - - HGNC:31532 MMS19 gene MMS19 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegenerative disease, MONDO:0005559, MMS19-related 38411040 False 1 0;0;100 4.430 True ENSG00000155229 ENSG00000155229 HGNC:13824 MTPAP gene MTPAP Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive, 613672;Ataxia, spastic, 4;Spastic ataxia 4, autosomal recessive 27391121;20970105 False 1 0;0;100 4.430 True ENSG00000107951 ENSG00000107951 HGNC:25532 MT-RNR2 gene MT-RNR2 Expert Review Red;Expert Review;Literature;Literature;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders MITOCHONDRIAL mitochondrial disease MONDO:0044970, MT-RNR2-related 29233888;17761147;24367055 False 1 0;0;100 4.430 True ENSG00000210082 ENSG00000210082 HGNC:7471 MYBPC3 gene MYBPC3 Expert Review Red;Expert list;Expert Review Amber;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy with myopathy PMID: 19858127 False 1 0;50;50 4.430 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYH1 gene MYH1 Expert Review Red;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis, MONDO:0005290 33755318 False 1 0;0;100 4.430 True ENSG00000109061 ENSG00000109061 HGNC:7567 MYH3 gene MYH3 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted paresthesia;rhabdomyolysis 28779239 False 1 50;0;50 4.430 True ENSG00000109063 ENSG00000109063 HGNC:7573 MYH7 gene MYH7 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laing distal myopathy 160500;Myopathy, myosin storage, autosomal dominant 608358;Myopathy, myosin storage, autosomal recessive 255160;Scapuloperoneal syndrome, myopathic type 181430 29300372;30924982;24714796;30623132;27519903 False 1 50;0;50 4.430 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYL1 gene MYL1 Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414 30215711 False 1 0;0;100 4.430 True ENSG00000168530 ENSG00000168530 HGNC:7582 NAMPT gene NAMPT Literature;Expert Review Red;Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hereditary motor and sensory neuropathy MONDO:0015358 41004591 False 1 0;0;100 4.430 False ENSG00000105835 ENSG00000105835 HGNC:30092 NEFH gene NEFH Expert Review Red;ClinGen Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 False 1 0;0;100 4.430 True ENSG00000100285 ENSG00000100285 HGNC:7737 NFATC2 gene NFATC2 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Skeletal system disorder MONDO:0005172 35789258 False 1 0;0;100 4.430 True ENSG00000101096 ENSG00000101096 HGNC:7776 NRG1 gene NRG1 Expert list;Expert Review;Expert Review Red;Expert Review Red;Expert Review Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy MONDO:0005244 35485770 False 1 0;0;100 4.430 False ENSG00000157168 ENSG00000157168 HGNC:7997 NRG3 gene NRG3 Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hirschsprung disease 23315268 False 1 0;0;100 4.430 True ENSG00000185737 ENSG00000185737 HGNC:7999 NRTN gene NRTN Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders Unknown Hirschsprung disease 21206993;10069332;9700200 False 1 0;0;100 4.430 True ENSG00000171119 ENSG00000171119 HGNC:8007 OFD1 gene OFD1 Expert Review Red;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) Joubert syndrome 10, MIM# 300804;Orofaciodigital syndrome I, MIM# 311200;Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209 20301367 False 1 0;0;100 4.430 True ENSG00000046651 ENSG00000046651 HGNC:2567 OPA1 gene OPA1 Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted gastrointestinal pseudo-obstruction 30395865 False 1 50;0;50 4.430 True ENSG00000198836 ENSG00000198836 HGNC:8140 OPA1 gene OPA1 Expert Review Red;Literature;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myopathy MONDO:0019952 38982518 False 1 0;50;50 4.430 True ENSG00000198836 ENSG00000198836 HGNC:8140 PCP4 gene PCP4 Expert Review Red;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related 39852553 False 1 0;0;100 4.430 True ENSG00000183036 ENSG00000183036 HGNC:8742 PEX7 gene PEX7 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease;Phytanic acid storage disease 20301447;12325024 False 1 0;0;100 4.430 True ENSG00000112357 ENSG00000112357 HGNC:8860 PGAP1 gene PGAP1 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 42 24482476 False 1 0;0;100 4.430 True ENSG00000197121 ENSG00000197121 HGNC:25712 PHKB gene PHKB Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 9215682;30397902 False 1 50;0;50 4.430 True ENSG00000102893 ENSG00000102893 HGNC:8927 PLEKHG5 gene PLEKHG5 Expert Review Red;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 17564964 False 1 0;0;100 4.430 True ENSG00000171680 ENSG00000171680 HGNC:29105 PLOD1 gene PLOD1 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400 False 1 0;0;100 4.430 True ENSG00000083444 ENSG00000083444 HGNC:9081 POLG2 gene POLG2 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131 21555342;27775730 False 1 50;0;50 4.430 True ENSG00000256525 ENSG00000256525 HGNC:9180 RAPGEF2 gene RAPGEF2 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092;amyotrophic lateral sclerosis MONDO:0004976 41556274;30636905 False 1 0;0;100 4.430 True ENSG00000109756 ENSG00000109756 HGNC:16854 RBM10 gene RBM10 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females TARP syndrome, MIM# 311900 False 1 0;0;100 4.430 True ENSG00000182872 ENSG00000182872 HGNC:9896 RBM7 gene RBM7 Expert Review Red;Expert list;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal SMA-like spinal motor neuropathy;dHMN/dSMA 27193168 False 1 0;0;100 4.430 False ENSG00000076053 ENSG00000076053 HGNC:9904 RPH3A gene RPH3A Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis 29441694 False 1 0;0;100 4.430 True ENSG00000089169 ENSG00000089169 HGNC:17056 SARS2 gene SARS2 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive spastic paraplegia 27279129 False 1 0;0;100 4.430 True ENSG00000104835 ENSG00000104835 HGNC:17697 SEMA3C gene SEMA3C Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders Unknown Hirschsprung disease 25839327 False 1 0;0;100 4.430 True ENSG00000075223 ENSG00000075223 HGNC:10725 SEMA3D gene SEMA3D Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders Unknown Hirschsprung disease 28334784;25839327 False 1 0;0;100 4.430 True ENSG00000153993 ENSG00000153993 HGNC:10726 SH3BP4 gene SH3BP4 Royal Melbourne Hospital;Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN 24627108 False 1 0;0;100 4.430 False ENSG00000130147 ENSG00000130147 HGNC:10826 SLC19A3 gene SLC19A3 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Biotin-thiamine-responsive basal ganglia disease, MIM#607483 False 1 0;0;100 4.430 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC33A1 gene SLC33A1 Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic paraplegia 42, autosomal dominant, MIM# 612539" 19061983;20461110 False 1 0;0;100 4.430 True ENSG00000169359 ENSG00000169359 HGNC:95 SLC52A1 gene SLC52A1 Expert Review Red;Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency, MIM#615026 29122468;17689999 False 1 0;0;100 4.430 True ENSG00000132517 ENSG00000132517 HGNC:30225 SNAP25 gene SNAP25 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Myasthenic syndrome, congenital, 18, 616330 25381298 False 1 0;0;100 4.430 True ENSG00000132639 ENSG00000132639 HGNC:11132 SOX8 gene SOX8 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), SOX8-related https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088 False 1 0;0;100 4.430 True ENSG00000005513 ENSG00000005513 HGNC:11203 STXBP1 gene STXBP1 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spasticity;Early infantile epileptic encephalopathy 4 32815282 False 1 0;0;100 4.430 True ENSG00000136854 ENSG00000136854 HGNC:11444 TBX22 gene TBX22 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders Unknown Cleft palate with ankyloglossia, MIM# 303400 False 1 0;0;100 4.430 True ENSG00000122145 ENSG00000122145 HGNC:11600 TCAP gene TCAP Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954) 25055047;22029105;18948002 False 1 50;0;50 4.430 True ENSG00000173991 ENSG00000173991 HGNC:11610 TMEM5 gene TMEM5 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 False 1 0;0;100 4.430 True ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM70 gene TMEM70 NHS GMS Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052 21147908 False 1 0;100;0 4.430 False ENSG00000175606 ENSG00000175606 HGNC:26050 TPP1 gene TPP1 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis neuronal 2, MIM#204500 27217339 False 1 0;0;100 4.430 True ENSG00000166340 ENSG00000166340 HGNC:2073 TRAPPC2L gene TRAPPC2L Expert Review Red;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 30120216;32843486 False 1 0;50;50 4.430 True ENSG00000167515 ENSG00000167515 HGNC:30887 TRIM72 gene TRIM72 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Limb girdle muscular dystrophy MONDO:0016971, TRIM72-related 40804694 False 1 0;0;100 4.430 True ENSG00000177238 ENSG00000177238 HGNC:32671 TRIP4 gene TRIP4 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 26924529 False 1 0;0;100 4.430 True ENSG00000103671 ENSG00000103671 HGNC:12310 TRMT1L gene TRMT1L Expert Review Red;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related 39786990 False 1 0;0;100 4.430 True ENSG00000121486 ENSG00000121486 HGNC:16782 TRMT1L gene TRMT1L Expert Review Red;Literature;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related 39786990 False 1 0;0;100 4.430 True ENSG00000121486 ENSG00000121486 HGNC:16782 TRPA1 gene TRPA1 Royal Melbourne Hospital;Expert Review Red;Expert Review Red Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic pain syndrome, familial, 1;HSAN/SFN 20547126 False 1 0;0;100 4.430 False ENSG00000104321 ENSG00000104321 HGNC:497 TRPV4 gene TRPV4 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, distal, congenital nonprogressive, 600175 False 1 50;0;50 4.430 True ENSG00000111199 ENSG00000111199 HGNC:18083 TSEN54 gene TSEN54 Expert Review Red;Expert Review Green;Royal Melbourne Hospital;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 5 610204;Pontocerebellar hypoplasia type 4 225753;Pontocerebellar hypoplasia type 2A 277470 23177318 False 1 50;0;50 4.430 True ENSG00000182173 ENSG00000182173 HGNC:27561 TTN gene TTN Expert Review Green;Expert Review Red;Expert Review;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital titinopathy;exercise intolerance 31353864 False 1 33;0;67 4.430 True ENSG00000155657 ENSG00000155657 HGNC:12403 TTR gene TTR Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyloidosis, hereditary, transthyretin-related, MIM# 105210 8960746 False 1 0;0;100 4.430 True ENSG00000118271 ENSG00000118271 HGNC:12405 TYMP gene TYMP Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 24199812 False 1 67;0;33 4.430 True ENSG00000025708 ENSG00000025708 HGNC:3148 UBA1 gene UBA1 Expert Review Red;Expert Review Green;Expert list;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 18179898;32181232;31932168;29034082;27699224;26028276;23518311 False 1 50;0;50 4.430 True ENSG00000130985 ENSG00000130985 HGNC:12469 UNC13A gene UNC13A Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal microcephaly, cortical hyperexcitability, and fatal myasthenia;dyskinesia;autism;developmental delay 19558619;27648472 False 1 0;0;100 4.430 True ENSG00000130477 ENSG00000130477 HGNC:23150 UNC80 gene UNC80 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 26545877;26708753;26708751 False 1 0;0;100 4.430 True ENSG00000144406 ENSG00000144406 HGNC:26582 USP14 gene USP14 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, USP14-related;Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features PMID: 35066879 False 1 0;0;100 4.430 True ENSG00000101557 ENSG00000101557 HGNC:12612 WDR48 gene WDR48 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 24482476 False 1 0;0;100 4.430 True ENSG00000114742 ENSG00000114742 HGNC:30914 ZFR gene ZFR Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complicated hereditary spastic paraplegia 24482476 False 1 0;0;100 4.430 True ENSG00000056097 ENSG00000056097 HGNC:17277 ZFYVE27 gene ZFYVE27 Royal Melbourne Hospital;Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 33, autosomal dominant, MIM#610244 29980238;18606302;16826525 False 1 0;0;100 4.430 False ENSG00000155256 ENSG00000155256 HGNC:26559 ZIC3 gene ZIC3 Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Heterotaxy, visceral, 1, X-linked, MIM# 306955;VACTERL association, X-linked, MIM# 314390 False 1 0;0;100 4.430 True ENSG00000156925 ENSG00000156925 HGNC:12874