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 3.352 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 3.352 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 3.352 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 3.352 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 3.352 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 3.352 True ENSG00000116337 ENSG00000116337 HGNC:469 AMPD2 gene AMPD2 Expert Review Red;Other;Expert Review Red;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, 615809 False 1 0;0;100 3.352 True ENSG00000116337 ENSG00000116337 HGNC:469 ARL6 gene ARL6 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, 600151 False 1 50;0;50 3.352 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert list;Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, MIM#617622 False 1 50;0;50 3.352 True ENSG00000135931 ENSG00000135931 HGNC:20730 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 3.352 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 3.352 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 3.352 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 3.352 True ENSG00000163399 ENSG00000163399 HGNC:799 ATP1A2 gene ATP1A2 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 1, 104290;Familial hemiplegic migraine 2, 602481 False 1 0;0;100 3.352 True ENSG00000018625 ENSG00000018625 HGNC:800 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 3.352 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 3.352 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease 277900;Wilson disease, 277900 False 1 0;0;100 3.352 True ENSG00000123191 ENSG00000123191 HGNC:870 BANF1 gene BANF1 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 3.352 True ENSG00000175334 ENSG00000175334 HGNC:17397 BBS10 gene BBS10 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, 615987 False 1 50;0;50 3.352 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, 615989 False 1 100;0;0 3.352 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, 615981 15637713 False 1 50;0;50 3.352 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, 615982 False 1 50;0;50 3.352 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, 615983 15637713 False 1 50;0;50 3.352 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, 615984 False 1 50;0;50 3.352 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, 615986 False 1 50;0;50 3.352 True ENSG00000122507 ENSG00000122507 HGNC:30000 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 3.352 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 3.352 True ENSG00000067191 ENSG00000067191 HGNC:1401 CACNB4 gene CACNB4 Expert Review Red;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia type 5, 613855 10762541;27003325;9628818 False 1 0;50;50 3.352 True ENSG00000182389 ENSG00000182389 HGNC:1404 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 3.352 True ENSG00000143318 ENSG00000143318 HGNC:1512 CCDC28B gene CCDC28B Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders Other {Bardet-Biedl syndrome 1, modifier of}, 209900 False 1 0;33;67 3.352 True ENSG00000160050 ENSG00000160050 HGNC:28163 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 3.352 True ENSG00000150753 ENSG00000150753 HGNC:1618 CHCHD10 gene CHCHD10 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 24934289 False 1 0;0;100 3.352 True ENSG00000250479 ENSG00000250479 HGNC:15559 CHMP1A gene CHMP1A Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, 614961 False 1 50;0;50 3.352 True ENSG00000131165 ENSG00000131165 HGNC:8740 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 3.352 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 3.352 True ENSG00000125656 ENSG00000125656 HGNC:2084 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 3.352 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 3.352 True Other ENSG00000134871 ENSG00000134871 HGNC:2203 COQ5 gene COQ5 Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 9, MIM#619028;Cerebellar ataxia;encephalopathy;generalized tonic-clonic seizures;intellectual disability 29044765 False 1 0;0;100 3.352 True ENSG00000110871 ENSG00000110871 HGNC:28722 COQ7 gene COQ7 Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia, COQ7-related (MONDO#0019064) PMID: 33215859 False 1 0;0;100 3.352 False ENSG00000167186 ENSG00000167186 HGNC:2244 CYP2U1 gene CYP2U1 Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, 615030 False 1 0;0;100 3.352 True ENSG00000155016 ENSG00000155016 HGNC:20582 DAB1 gene DAB1 Expert Review Red;Literature;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal epilepsy;developmental delay;cerebellar ataxia;structural brain abnormalities;oral motor difficulty PMID: 33928188 False 1 33;33;33 3.352 True ENSG00000173406 ENSG00000173406 HGNC:2661 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 3.352 True ENSG00000110887 ENSG00000110887 HGNC:2671 DNM2 gene DNM2 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 3.352 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 3.352 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 3.352 True ENSG00000117298 ENSG00000117298 HGNC:3146 EEF2 gene EEF2 Expert Review Red;Royal Melbourne Hospital;GeneReviews;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 26 15732118;23001565 False 1 100;0;0 3.352 True ENSG00000167658 ENSG00000167658 HGNC:3214 ELOVL1 gene ELOVL1 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 False 1 0;33;67 3.352 True ENSG00000066322 ENSG00000066322 HGNC:14418 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 3.352 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 3.352 True ENSG00000182944 ENSG00000182944 HGNC:3508 EXOSC3 gene EXOSC3 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, 614678 False 1 100;0;0 3.352 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 3.352 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 3.352 True ENSG00000120699 ENSG00000120699 HGNC:17035 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 3.352 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 3.352 True ENSG00000176165 ENSG00000176165 HGNC:3811 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 3.352 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 3.352 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 3.352 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 3.352 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 3.352 False ENSG00000159921 ENSG00000159921 HGNC:23657 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 3.352 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" 31827252 False 1 0;0;100 3.352 True ENSG00000112855 ENSG00000112855 HGNC:4817 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 3.352 True ENSG00000112855 ENSG00000112855 HGNC:4817 HSPB3 gene HSPB3 Expert Review Red;Royal Melbourne Hospital 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 3.352 True 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 3.352 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 autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458);HMSN 29362493;19409521 False 1 0;0;100 3.352 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 autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia 29362493 False 1 0;0;100 3.352 True ENSG00000006652 ENSG00000006652 HGNC:5456 IFRD1 gene IFRD1 Expert Review Red;Expert Review;Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 18 MIM#607458 29362493;28601596;19409521 False 1 0;0;100 3.352 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 3.352 True ENSG00000132740 ENSG00000132740 HGNC:5542 IQGAP3 gene IQGAP3 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary neuropathy 32341455 False 1 0;0;100 3.352 True 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 3.352 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 3.352 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 3.352 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 3.352 True ENSG00000120457 ENSG00000120457 HGNC:6266 KIF1B gene KIF1B 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 3.352 True ENSG00000054523 ENSG00000054523 HGNC:16636 KLC4 gene KLC4 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;progressive complicated spastic paraplegia 26423925 False 1 0;0;100 3.352 True ENSG00000137171 ENSG00000137171 HGNC:21624 KLHL13 gene KLHL13 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 3.352 True ENSG00000003096 ENSG00000003096 HGNC:22931 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 3.352 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 3.352 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 3.352 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 3.352 True ENSG00000001497 ENSG00000001497 HGNC:25726 LAS1L gene LAS1L 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 50;0;50 3.352 True ENSG00000001497 ENSG00000001497 HGNC:25726 MARS gene MARS Expert Review Red;Royal Melbourne Hospital 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 3.352 True ENSG00000166986 ENSG00000166986 HGNC:6898 MED25 gene MED25 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 3.352 True 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 3.352 True - - HGNC:31532 MME gene MME Expert Review Green;Royal Melbourne Hospital;GeneReviews;Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Spinocerebellar ataxia type 43, 617018 27583304 False 1 50;0;50 3.352 False ENSG00000196549 ENSG00000196549 HGNC:7154 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 3.352 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 3.352 True ENSG00000107951 ENSG00000107951 HGNC:25532 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 3.352 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 3.352 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 3.352 True ENSG00000109063 ENSG00000109063 HGNC:7573 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 3.352 True ENSG00000100285 ENSG00000100285 HGNC:7737 NOL3 gene NOL3 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myoclonus, familial cortical 22926851 False 1 0;0;100 3.352 True ENSG00000140939 ENSG00000140939 HGNC:7869 NRG1 gene NRG1 Expert Review Red;Expert Review;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy MONDO:0005244 35485770 False 1 0;33;67 3.352 True 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 3.352 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 3.352 True ENSG00000171119 ENSG00000171119 HGNC:8007 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 3.352 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 3.352 True ENSG00000198836 ENSG00000198836 HGNC:8140 PAX6 gene PAX6 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aniridia, 106210;Aniridia, Cerebellar Ataxia, And Mental Retardation False 1 50;0;50 3.352 False ENSG00000007372 ENSG00000007372 HGNC:8620 PCDH12 gene PCDH12 Expert Review Green;Expert Review Red;Royal Melbourne Hospital;GeneReviews;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cerebellar ataxia, dystonia, retinopathy, and dysmorphism 30459466 False 1 50;0;50 3.352 True ENSG00000113555 ENSG00000113555 HGNC:8657 PCYT2 gene PCYT2 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal global developmental delay;regression;spastic parapesis or tetraparesis;epilepsy;progressive cerebral and cerebellar atrophy 31637422 False 1 50;0;50 3.352 True ENSG00000185813 ENSG00000185813 HGNC:8756 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 3.352 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 3.352 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 3.352 True ENSG00000102893 ENSG00000102893 HGNC:8927 PIK3R5 gene PIK3R5 Expert Review Red;Expert Review Red;Literature;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 3, OMIM #615217 PubMed: 22065524 False 1 0;0;100 3.352 True ENSG00000141506 ENSG00000141506 HGNC:30035 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 3.352 True ENSG00000171680 ENSG00000171680 HGNC:29105 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 3.352 True ENSG00000256525 ENSG00000256525 HGNC:9180 PRICKLE1 gene PRICKLE1 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive myoclonic epilepsy 1B, 612437;Progressive Myoclonus Epilepsy with Ataxia 20301774 False 1 0;0;100 3.352 True ENSG00000139174 ENSG00000139174 HGNC:17019 RARS2 gene RARS2 Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523;early onset cerebellar ataxia 31429931;17847012;25809939;20635367 False 1 0;0;100 3.352 True ENSG00000146282 ENSG00000146282 HGNC:21406 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 3.352 True ENSG00000089169 ENSG00000089169 HGNC:17056 SAR1B gene SAR1B Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, 246700 False 1 50;0;50 3.352 True ENSG00000152700 ENSG00000152700 HGNC:10535 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 3.352 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 3.352 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 3.352 True ENSG00000153993 ENSG00000153993 HGNC:10726 SEPSECS gene SEPSECS Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, 613811;cerebellar ataxia and cognitive impairment 29464431 False 1 50;0;50 3.352 True ENSG00000109618 ENSG00000109618 HGNC:30605 SH3BP4 gene SH3BP4 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 3.352 True 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 3.352 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC33A1 gene SLC33A1 Expert Review Red;Expert list;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 42, autosomal dominant;Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD 27935820;19061983 False 1 0;0;100 3.352 True ENSG00000169359 ENSG00000169359 HGNC:95 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 3.352 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 3.352 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 3.352 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 3.352 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 3.352 True ENSG00000136854 ENSG00000136854 HGNC:11444 SYT14 gene SYT14 Expert Review Red;Royal Melbourne Hospital;GeneReviews;Expert Review Red;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellarataxia,autosomalrecessive11,614229 21835308 False 1 0;0;100 3.352 False ENSG00000143469 ENSG00000143469 HGNC:23143 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 3.352 True ENSG00000173991 ENSG00000173991 HGNC:11610 TGM6 gene TGM6 Expert Review Red;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 35, 613908;Spinocerebellar ataxia 35 25253745;21106500;28934387;22554020;30670339;29053796;23206699 False 1 0;0;100 3.352 True ENSG00000166948 ENSG00000166948 HGNC:16255 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 3.352 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 3.352 True ENSG00000166340 ENSG00000166340 HGNC:2073 TPR gene TPR Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 34494102 False 1 0;0;100 3.352 True ENSG00000047410 ENSG00000047410 HGNC:12017 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 3.352 True ENSG00000167515 ENSG00000167515 HGNC:30887 TRIM32 gene TRIM32 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110;?Bardet-Biedl syndrome 11, 615988 False 1 50;0;50 3.352 True ENSG00000119401 ENSG00000119401 HGNC:16380 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 3.352 True ENSG00000103671 ENSG00000103671 HGNC:12310 TRPA1 gene TRPA1 Expert Review Red;Royal Melbourne Hospital 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 3.352 True 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 3.352 True ENSG00000111199 ENSG00000111199 HGNC:18083 TSEN2 gene TSEN2 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, 612389 False 1 0;0;100 3.352 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 2C, 612390 False 1 0;0;100 3.352 True ENSG00000170892 ENSG00000170892 HGNC:15506 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 3.352 True ENSG00000182173 ENSG00000182173 HGNC:27561 TSEN54 gene TSEN54 Expert list;Expert Review Red;Expert list Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown adult-onset cerebellar ataxia 24938831 False 1 0;0;100 3.352 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSPOAP1 gene TSPOAP1 Expert Review Red;Literature Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 22, MIM# 620453 33539324 False 1 0;50;50 3.352 True ENSG00000005379 ENSG00000005379 HGNC:16831 TTC8 gene TTC8 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, 615985 False 1 50;0;50 3.352 True ENSG00000165533 ENSG00000165533 HGNC:20087 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 67;0;33 3.352 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 3.352 True ENSG00000118271 ENSG00000118271 HGNC:12405 TUBA1A gene TUBA1A Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3, 611603 21403111 False 1 67;0;33 3.352 True ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB2A gene TUBB2A Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?progressive spastic ataxia syndrome resembling sacsinopathy;Complex cortical dysplasia with other brain malformations 5, 615763 29547997;32203252 False 1 50;0;50 3.352 True ENSG00000137267 ENSG00000137267 HGNC:12412 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 3.352 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 3.352 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 3.352 True ENSG00000130477 ENSG00000130477 HGNC:23150 VWA3B gene VWA3B Expert Review Red;Royal Melbourne Hospital;GeneReviews Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 22 26157035 False 1 0;0;100 3.352 False ENSG00000168658 ENSG00000168658 HGNC:28385 WDPCP gene WDPCP Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 15, 615992;?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 False 1 50;0;50 3.352 True ENSG00000143951 ENSG00000143951 HGNC:28027 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 3.352 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 3.352 True ENSG00000056097 ENSG00000056097 HGNC:17277 ZFYVE27 gene ZFYVE27 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 3.352 True ENSG00000155256 ENSG00000155256 HGNC:26559 ZNF423 gene ZNF423 Expert Review Red;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 14 False 1 0;33;67 3.352 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF592 gene ZNF592 Expert Review Red;Royal Melbourne Hospital Neuromuscular Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 5;Galloway-Mowat Syndrome 1, 251300 20531441;26123727 False 1 0;0;100 3.352 True ENSG00000166716 ENSG00000166716 HGNC:28986