Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AAAS gene AAAS Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome MIM#231550;complicated hereditary spastic paraplegia 30381913 False 2 0;100;0 19.48 True ENSG00000094914 ENSG00000094914 HGNC:13666 AARS gene AARS Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661 31775912 False 2 0;100;0 19.48 True ENSG00000090861 ENSG00000090861 HGNC:20 AARS2 gene AARS2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8, 614096;Leukoencephalopathy progressive with ovarian failure, 615889 21549344;25817015;32571458;24808023 False 2 0;100;0 19.48 True ENSG00000124608 ENSG00000124608 HGNC:21022 AASS gene AASS Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, MIM# 238700 23570448 False 2 0;100;0 19.48 True ENSG00000008311 ENSG00000008311 HGNC:17366 ABCC9 gene ABCC9 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability and myopathy syndrome, MIM# 619719 31575858 False 2 0;100;0 19.48 True ENSG00000069431 ENSG00000069431 HGNC:60 ABHD16A gene ABHD16A Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 86, autosomal recessive, MIM# 619735;seizures;myoclonic seizures;developmental delay (PMID: 34587489,34489854;32462874) False 2 0;50;50 19.48 True ENSG00000204427 ENSG00000204427 HGNC:13921 ACADS gene ACADS Expert Review Amber;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470;MONDO:0008722 False 2 0;100;0 19.48 True ENSG00000122971 ENSG00000122971 HGNC:90 ACADS gene ACADS Expert Review Amber;Literature;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470;MONDO:0008722 25778941;2808706;29678161 False 2 50;50;0 19.48 True ENSG00000122971 ENSG00000122971 HGNC:90 ACADVL gene ACADVL Expert Review Amber;Expert list;Expert Review Green;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "VLCAD deficiency 201475" PMID: 9546340;32558070;22097235;24305961 False 2 50;50;0 19.48 True ENSG00000072778 ENSG00000072778 HGNC:92 ACBD5 gene ACBD5 Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy;syndromic cleft palate;ataxia;retinal dystrophy 27799409;23105016 False 2 50;50;0 19.48 True ENSG00000107897 ENSG00000107897 HGNC:23338 ACSF3 gene ACSF3 Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined malonic and methylmalonic aciduria MIM#614265 21841779;30740739 False 2 0;100;0 19.48 True ENSG00000176715 ENSG00000176715 HGNC:27288 ADA2 gene ADA2 Genomics England PanelApp;Expert Review Amber Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sneddon syndrome 182410;Polyarteritis nodosa 3471198, 25528372 False 2 0;100;0 19.48 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADAT3 gene ADAT3 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation autosomal recessive 36, 615286 26842963;23620220;30296593 False 2 0;100;0 19.48 True ENSG00000213638 ENSG00000213638 HGNC:25151 ADGRL1 gene ADGRL1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065 PMID: 35907405 False 2 0;100;0 19.48 True ENSG00000072071 ENSG00000072071 HGNC:20973 ADGRV1 gene ADGRV1 Expert Review Green;Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myoclonic epilepsy;febrile seizures;epilepsy;Rolandic epilepsy 29266188;29261713;32962041;34160719 False 2 50;50;0 19.48 True ENSG00000164199 ENSG00000164199 HGNC:17416 AFG3L2 gene AFG3L2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive MIM#614487;Early-onset dystonia 22964162;16541453;32219868;36110148 False 2 33;0;67 19.48 True ENSG00000141385 ENSG00000141385 HGNC:315 AFG3L2 gene AFG3L2 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 28, MIM# 610246;optic atrophy;spastic ataxia;L-dopa-responsive parkinsonism 30252181;36110148 False 2 33;33;33 19.48 True ENSG00000141385 ENSG00000141385 HGNC:315 ALK gene ALK Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic-dystonic diplegia PMID: 32989326 False 2 0;100;0 19.48 True ENSG00000171094 ENSG00000171094 HGNC:427 ALK gene ALK Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic-dystonic diplegia PMID: 32989326 False 2 0;100;0 19.48 True ENSG00000171094 ENSG00000171094 HGNC:427 ANG gene ANG Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753;MIM#611895) 17886298;16501576;18087731;20301623 False 2 100;0;0 19.48 True ENSG00000214274 ENSG00000214274 HGNC:483 ANO1 gene ANO1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease 7, MIM# 620687 PMID: 37253099 False 2 33;67;0 19.48 True ENSG00000131620 ENSG00000131620 HGNC:21625 ANXA11 gene ANXA11 Expert Review Amber;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 34048612 False 2 0;100;0 19.48 True ENSG00000122359 ENSG00000122359 HGNC:535 ANXA11 gene ANXA11 Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 34048612 False 2 0;100;0 19.48 True ENSG00000122359 ENSG00000122359 HGNC:535 AP1S2 gene AP1S2 Expert Review Amber;Literature;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pettigrew syndrome, MIM# 304340 23756445 False 2 50;50;0 19.48 True ENSG00000182287 ENSG00000182287 HGNC:560 AP3D1 gene AP3D1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 10, MIM# 617050 (PMID: 26744459;30472485;19032734;36445457 False 2 0;100;0 19.48 True ENSG00000065000 ENSG00000065000 HGNC:568 AP4M1 gene AP4M1 Expert Review Amber;Expert list;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, MIM# 612936 29473051 False 2 50;50;0 19.48 True ENSG00000221838 ENSG00000221838 HGNC:574 AP5Z1 gene AP5Z1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 48, autosomal recessive, MIM# 613647" 26085577 False 2 0;100;0 19.48 True ENSG00000242802 ENSG00000242802 HGNC:22197 APOE gene APOE Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease 2, MIM# 104310 False 2 0;100;0 19.48 True ENSG00000130203 ENSG00000130203 HGNC:613 APOO gene APOO Expert Review Amber;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial disease, MONDO:0044970, APOO-related;Developmental delay;Lactic acidosis;Muscle weakness;Hypotonia;Repetitive infections;Cognitive impairment;Autistic behaviour 32439808;37649161 False 2 0;67;33 19.48 True ENSG00000184831 ENSG00000184831 HGNC:28727 APP gene APP Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease 1, familial, MIM# 104300 False 2 0;100;0 19.48 True ENSG00000142192 ENSG00000142192 HGNC:620 AQP4 gene AQP4 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 PMID: 37143309 False 2 0;100;0 19.48 True ENSG00000171885 ENSG00000171885 HGNC:637 AQP4 gene AQP4 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 37143309 False 2 0;100;0 19.48 True ENSG00000171885 ENSG00000171885 HGNC:637 ARHGEF10 gene ARHGEF10 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Slowed nerve conduction velocity, AD, 608236;HMSN 14508709;21719701;25025039;25275565;25091364 False 2 50;50;0 19.48 True ENSG00000104728 ENSG00000104728 HGNC:14103 ARPC3 gene ARPC3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease MONDO:0015626 36928819;26166300 False 2 0;100;0 19.48 True ENSG00000111229 ENSG00000111229 HGNC:706 ASPH gene ASPH Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exertional heat illness;malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related 35697689 False 2 50;50;0 19.48 True ENSG00000198363 ENSG00000198363 HGNC:757 ATG5 gene ATG5 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 25 16625204;26812546 False 2 0;100;0 19.48 True ENSG00000057663 ENSG00000057663 HGNC:589 ATM gene ATM Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, MIM#208900;Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated -fetoprotein;Ataxia-telangiectasia syndrome 32259893;20301790 False 2 0;50;50 19.48 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP11A gene ATP11A Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 24 , MIM# 619851 PMID: 34403372 False 2 0;100;0 19.48 True Other ENSG00000068650 ENSG00000068650 HGNC:13552 ATP2B3 gene ATP2B3 Expert Review Amber;Expert list;Expert Review Amber;Royal Melbourne Hospital;GeneReviews Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Spinocerebellar ataxia, X-linked 1 False 2 0;100;0 19.48 True ENSG00000067842 ENSG00000067842 HGNC:816 ATP2B4 gene ATP2B4 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pure and complicated hereditary spastic paraplegia 29691679;25798335;25119969 False 2 0;100;0 19.48 True ENSG00000058668 ENSG00000058668 HGNC:817 ATP5A1 gene ATP5A1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 22 616045;Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 23599390 False 2 0;100;0 19.48 True ENSG00000152234 ENSG00000152234 HGNC:823 ATP5A1 gene ATP5A1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 22 616045;Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228;Mitochondrial disorder, autosomal dominant 23599390;34483339 False 2 0;100;0 19.48 True ENSG00000152234 ENSG00000152234 HGNC:823 ATP5B gene ATP5B Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited dystonia, MONDO:0044807, ATP5B-related 36860166;36239646 False 2 0;100;0 19.48 True ENSG00000110955 ENSG00000110955 HGNC:830 ATP5B gene ATP5B Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited dystonia, MONDO:0044807, ATP5B-related 36860166 False 2 50;50;0 19.48 True ENSG00000110955 ENSG00000110955 HGNC:830 ATP5E gene ATP5E Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 PMID: 34954817, PMID: 22231385 False 2 0;100;0 19.48 True ENSG00000124172 ENSG00000124172 HGNC:838 ATP7B gene ATP7B Expert Review Amber;Expert list;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, MIM# 277900 27543917;28376267 False 2 50;50;0 19.48 True ENSG00000123191 ENSG00000123191 HGNC:870 ATP7B gene ATP7B Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, 277900 16966556;12020274 False 2 0;100;0 19.48 True ENSG00000123191 ENSG00000123191 HGNC:870 B4GALNT1 gene B4GALNT1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive (MIM#609195;MONDO:0012213) 20301682;23746551 False 2 0;100;0 19.48 True ENSG00000135454 ENSG00000135454 HGNC:4117 B4GAT1 gene B4GAT1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM#615287 PMID 23877401, PMID: 23359570 False 2 0;100;0 19.48 True ENSG00000174684 ENSG00000174684 HGNC:15685 BAG3 gene BAG3 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6 (MIM#612954;MONDO:0013061) 19085932 False 2 0;100;0 19.48 True ENSG00000151929 ENSG00000151929 HGNC:939 BICD2 gene BICD2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291 23664120;25497877;24482476 False 2 0;100;0 19.48 True ENSG00000185963 ENSG00000185963 HGNC:17208 BICD2 gene BICD2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder, BICD2-related (MONDO#0700092) PMID: 35896821, PMID: 28635954, PMID: 32057122, PMID: 25497877, PMID: 35338243 False 2 0;100;0 19.48 True ENSG00000185963 ENSG00000185963 HGNC:17208 C1orf194 gene C1orf194 Expert Review Amber;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, intermediate or demyelinating 31199454;32592472 False 2 0;100;0 19.48 True ENSG00000179902 ENSG00000179902 HGNC:32331 C1R gene C1R Expert Review Amber;Other;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080);Leukodystrophy - adult onset 8958339;30535813 False 2 0;100;0 19.48 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000159403 ENSG00000159403 HGNC:1246 CACNB4 gene CACNB4 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Epilepsy, idiopathic generalized, susceptibility to, 9} 607682;{Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682" 10762541;35813387;31056551;22892567 False 2 0;100;0 19.48 True ENSG00000182389 ENSG00000182389 HGNC:1404 CACNB4 gene CACNB4 Expert Review Red;Expert list;Expert Review Amber;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 5, MIM#613855 10762541;9628818;27003325 False 2 0;50;50 19.48 True ENSG00000182389 ENSG00000182389 HGNC:1404 CAMK2D gene CAMK2D Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related 38272033 False 2 0;100;0 19.48 True ENSG00000145349 ENSG00000145349 HGNC:1462 CCDC88C gene CCDC88C Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early-onset pure hereditary spastic paraplegia 33602173 False 2 0;100;0 19.48 True ENSG00000015133 ENSG00000015133 HGNC:19967 CCDC88C gene CCDC88C Expert Review Amber;Royal Melbourne Hospital;GeneReviews;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant spinocerebellar ataxia;?Spinocerebellar ataxia 40, 616053 25062847;30398676 False 2 33;67;0 19.48 True ENSG00000015133 ENSG00000015133 HGNC:19967 CCNF gene CCNF Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 29102476;31577344;27080313;28105640;31445393;28852778 False 2 0;100;0 19.48 True ENSG00000162063 ENSG00000162063 HGNC:1591 CCNF gene CCNF Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 27080313 False 2 0;100;0 19.48 True ENSG00000162063 ENSG00000162063 HGNC:1591 CCT5 gene CCT5 Expert Review Amber;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia, 256840;HSAN with spastic paraplegia 12874111;16399879;25124038;28623285 False 2 0;100;0 19.48 True ENSG00000150753 ENSG00000150753 HGNC:1618 CCT5 gene CCT5 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia, 256840;HMSN 16399879;25124038;25345891;33076433;37237456 False 2 0;100;0 19.48 True ENSG00000150753 ENSG00000150753 HGNC:1618 CCT6A gene CCT6A Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, CCT6A-related 39480921 False 2 0;100;0 19.48 True ENSG00000146731 ENSG00000146731 HGNC:1620 CD320 gene CD320 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646;Disorders of cobalamin absorption, transport and metabolism 29663633;27604308;30303736 False 2 100;0;0 19.48 True ENSG00000167775 ENSG00000167775 HGNC:16692 CDC42BPB gene CDC42BPB Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841 32031333 False 2 0;100;0 19.48 True ENSG00000198752 ENSG00000198752 HGNC:1738 CDK5 gene CDK5 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Lissencephaly 7 with cerebellar hypoplasia MIM#616342" 25560765 False 2 0;100;0 19.48 True ENSG00000164885 ENSG00000164885 HGNC:1774 CEP89 gene CEP89 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency 23575228 False 2 0;0;100 19.48 True ENSG00000121289 ENSG00000121289 HGNC:25907 CHD4 gene CHD4 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Moya Moya;Sifrim-Hitz-Weiss syndrome, MIM# 617159" 31474762 False 2 0;0;100 19.48 True ENSG00000111642 ENSG00000111642 HGNC:1919 CHD8 gene CHD8 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, CHD8-related, MIM#615032;Dystonia 34415117 False 2 0;100;0 19.48 True ENSG00000100888 ENSG00000100888 HGNC:20153 CHKB gene CHKB Expert Review Amber;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megaconial type congenital muscular dystrophy MONDO:0011246;recurrent rhabdomyolysis;CHKB-Related Muscular Dystrophy 26782016;37011121;21665002;23692895;24997086 False 2 50;50;0 19.48 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHKB gene CHKB Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megaconial type congenital muscular dystrophy MONDO:0011246;CHKB-Related Muscular Dystrophy 37011121 False 2 50;50;0 19.48 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHMP3 gene CHMP3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related PMID: 35710109 False 2 0;100;0 19.48 True ENSG00000115561 ENSG00000115561 HGNC:29865 CHP1 gene CHP1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM #618438 29379881;32787936 False 2 50;50;0 19.48 True ENSG00000187446 ENSG00000187446 HGNC:17433 CHP1 gene CHP1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM #618438 29379881;32787936 False 2 50;50;0 19.48 True ENSG00000187446 ENSG00000187446 HGNC:17433 CIZ1 gene CIZ1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 23, 614860 27163549;29154038;22447717 False 2 0;100;0 19.48 True ENSG00000148337 ENSG00000148337 HGNC:16744 CLCN7 gene CLCN7 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 31155284 False 2 0;100;0 19.48 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103249 ENSG00000103249 HGNC:2025 CLTCL1 gene CLTCL1 Expert Review Amber;Literaure;Review;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown Congenital insensitivity to pain 26068709;29402896 False 2 0;100;0 19.48 True ENSG00000070371 ENSG00000070371 HGNC:2093 CMPK2 gene CMPK2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related 36443312 False 2 0;100;0 19.48 True ENSG00000134326 ENSG00000134326 HGNC:27015 CMPK2 gene CMPK2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related 36443312 False 2 0;100;0 19.48 True ENSG00000134326 ENSG00000134326 HGNC:27015 CNOT3 gene CNOT3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Moya Moya;Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672" 31474762 False 2 0;100;0 19.48 True ENSG00000088038 ENSG00000088038 HGNC:7879 CNP gene CNP Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 20, MIM# 619071 32128616;12590258 False 2 0;100;0 19.48 True ENSG00000173786 ENSG00000173786 HGNC:2158 COASY gene COASY Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, MIM# 615643 28489334;24360804 False 2 0;100;0 19.48 True ENSG00000068120 ENSG00000068120 HGNC:29932 COG3 gene COG3 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, MIM# 620546 PMID: 37711075 False 2 0;100;0 19.48 True ENSG00000136152 ENSG00000136152 HGNC:18619 COG3 gene COG3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, MIM# 620546 37711075 False 2 0;100;0 19.48 True ENSG00000136152 ENSG00000136152 HGNC:18619 COG4 gene COG4 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj, MIM#613489 False 2 0;100;0 19.48 True ENSG00000103051 ENSG00000103051 HGNC:18620 COG6 gene COG6 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, MIM#614650 False 2 0;100;0 19.48 True ENSG00000133103 ENSG00000133103 HGNC:18621 COG8 gene COG8 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh, 611182 28619360;17220172;17331980 False 2 50;50;0 19.48 True ENSG00000213380 ENSG00000213380 HGNC:18623 COL4A2 gene COL4A2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial porencephaly MONDO:0020496 35699195;37272523;36300346 False 2 0;100;0 19.48 True ENSG00000134871 ENSG00000134871 HGNC:2203 COL6A3 gene COL6A3 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 27, MIM#616411 26004199;32037012;26872670;32037012 False 2 50;50;0 19.48 True ENSG00000163359 ENSG00000163359 HGNC:2213 COLGALT1 gene COLGALT1 Expert Review Amber;Expert Review;Expert Review Green;Other Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3 MIM#618360 30412317;33709034;31759980 False 2 50;50;0 19.48 True ENSG00000130309 ENSG00000130309 HGNC:26182 COQ6 gene COQ6 Expert Review Green;Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, MIM#614650 21540551 False 2 50;50;0 19.48 True ENSG00000119723 ENSG00000119723 HGNC:20233 COX10 gene COX10 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, MIM#220110 10767350 False 2 0;100;0 19.48 True ENSG00000006695 ENSG00000006695 HGNC:2260 COX10 gene COX10 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046) 10767350 False 2 0;100;0 19.48 True ENSG00000006695 ENSG00000006695 HGNC:2260 COX14 gene COX14 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053" 22243966 False 2 0;100;0 19.48 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX15 gene COX15 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2;MIM#615119 and Leigh syndrome #256000 21412973;12474143;15863660;15235026 False 2 0;100;0 19.48 True ENSG00000014919 ENSG00000014919 HGNC:2263 COX16 gene COX16 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355;Hypertrophic cardiomyopathy;encephalopathy;severe fatal lactic acidosis 33169484 False 2 0;100;0 19.48 True ENSG00000133983 ENSG00000133983 HGNC:20213 COX4I1 gene COX4I1 Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060;regression;seizures;short stature;mild dysmorphic features;Fanconi anemia 28766551;22592081;31290619 False 2 0;50;50 19.48 True ENSG00000131143 ENSG00000131143 HGNC:2265 COX5A gene COX5A Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064;pulmonary arterial hypertension;lactic acidemia;failure to thrive;isolated complex IV deficiency 28247525;35246835 False 2 0;50;50 19.48 True ENSG00000178741 ENSG00000178741 HGNC:2267 CP gene CP Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290" PMID: 32741407, PMID: 18200628 False 2 0;100;0 19.48 True ENSG00000047457 ENSG00000047457 HGNC:2295 CRAT gene CRAT Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 8, MIM# 617917;Leigh syndrome" 29395073;31448845 False 2 0;100;0 19.48 True ENSG00000095321 ENSG00000095321 HGNC:2342 CRYAB gene CRYAB Expert Review Green;Expert Review Amber;Expert list;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 2, MIM# 608810 PMID: 21337604;32420686 False 2 25;75;0 19.48 True ENSG00000109846 ENSG00000109846 HGNC:2389 CTC1 gene CTC1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, 612199 22267198;22387016;22532422 False 2 0;100;0 19.48 True ENSG00000178971 ENSG00000178971 HGNC:26169 CTH gene CTH Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cystathioninuria MIM#219500 12574942;20584029;24761004;15151507 False 2 100;0;0 19.48 True ENSG00000116761 ENSG00000116761 HGNC:2501 CUL3 gene CUL3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without autism or seizures, MIM# 619239;Global developmental delay;Intellectual disability;Seizures;Abnormality of cardiovascular system morphology;Abnormality of the palate 32341456 False 2 0;100;0 19.48 True ENSG00000036257 ENSG00000036257 HGNC:2553 CYLD gene CYLD Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 32185393 False 2 0;50;50 19.48 True ENSG00000083799 ENSG00000083799 HGNC:2584 CYLD gene CYLD Expert Review Amber;Literature;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 32666117;32666099;32185393 False 2 25;50;25 19.48 True Other ENSG00000083799 ENSG00000083799 HGNC:2584 CYP2U1 gene CYP2U1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive 615030 27292318 False 2 0;100;0 19.48 False ENSG00000155016 ENSG00000155016 HGNC:20582 DALRD3 gene DALRD3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy;Epileptic encephalopathy, early infantile, 86 618910" 32427860;39482881 False 2 0;100;0 19.48 True ENSG00000178149 ENSG00000178149 HGNC:25536 DARS2 gene DARS2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105" 17384640;15002045;16788019;30352563;34104671 False 2 0;50;50 19.48 True ENSG00000117593 ENSG00000117593 HGNC:25538 DCAF8 gene DCAF8 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Giant axonal neuropathy 2, autosomal dominant, 610100;HMSN 24500646 False 2 0;100;0 19.48 True ENSG00000132716 ENSG00000132716 HGNC:24891 DCXR gene DCXR Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pentosuria MIM#260800;Disorders of pentose metabolism 22042873 False 2 100;0;0 19.48 True ENSG00000169738 ENSG00000169738 HGNC:18985 DDC gene DDC Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, MIM# 608643;Infantile-onset parkinsonism & dystonia;Bulbar dysfunction;Oculogyric crisis;Autonomic dysfunction;Intellectual disability PMID: 33983693 False 2 50;50;0 19.48 True ENSG00000132437 ENSG00000132437 HGNC:2719 DDHD1 gene DDHD1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy False 2 0;100;0 19.48 True ENSG00000100523 ENSG00000100523 HGNC:19714 DDOST gene DDOST Expert Review Amber;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir, MIM# 614507 22305527 False 2 50;50;0 19.48 True ENSG00000244038 ENSG00000244038 HGNC:2728 DGAT2 gene DGAT2 Expert Review Amber;Expert Review Amber;Expert Review;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related 26786738 False 2 0;100;0 19.48 True ENSG00000062282 ENSG00000062282 HGNC:16940 DHDDS gene DHDDS Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay and seizures with or without movement abnormalities, MIM# 617836;Myoclonic Epilepsy;Parkinsonism;Ataxia;Intellectual disability PMID: 34837344;29100083 False 2 50;50;0 19.48 True ENSG00000117682 ENSG00000117682 HGNC:20603 DHFR gene DHFR Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 21310276;21310277 False 2 0;100;0 19.48 True ENSG00000228716 ENSG00000228716 HGNC:2861 DHTKD1 gene DHTKD1 Expert Review Green;Expert Review Amber;NHS GMS;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN;Charcot Marie Tooth disease, axonal, type 2Q, 615025;2 aminoadipic 2 oxoadipic aciduria, 204750 23141294;29661920;28902413 False 2 50;50;0 19.48 True ENSG00000181192 ENSG00000181192 HGNC:23537 DMGDH gene DMGDH Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dimethylglycine dehydrogenase deficiency MIM#605850;Disorders and variants of other enzymes that oxidise xenobiotics 11231903;18937046;28881522;27604308 False 2 0;100;0 19.48 True ENSG00000132837 ENSG00000132837 HGNC:24475 DNAJC6 gene DNAJC6 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 19b, early-onset, MIM#615528 23211418 False 2 50;50;0 19.48 True ENSG00000116675 ENSG00000116675 HGNC:15469 DNAJC7 gene DNAJC7 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown amyotrophic lateral sclerosis 31768050 False 2 33;67;0 19.48 True ENSG00000168259 ENSG00000168259 HGNC:12392 DNMT3B gene DNMT3B Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral muscular dystrophy MONDO:0001347 27153398;33004076 False 2 50;50;0 19.48 True ENSG00000088305 ENSG00000088305 HGNC:2979 DPM2 gene DPM2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM#615042 23109149 False 2 0;100;0 19.48 True ENSG00000136908 ENSG00000136908 HGNC:3006 DROSHA gene DROSHA Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), DROSHA-related 35405010 False 2 0;100;0 19.48 True ENSG00000113360 ENSG00000113360 HGNC:17904 DSTYK gene DSTYK Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 23, MIM#270750 28157540;23862974 False 2 0;100;0 19.48 True ENSG00000133059 ENSG00000133059 HGNC:29043 DTYMK gene DTYMK Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) False 2 0;100;0 19.48 True ENSG00000168393 ENSG00000168393 HGNC:3061 EBP gene EBP Expert Review Amber;Expert Review Progressive Neurological Conditions 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) Chondrodysplasia punctata, X-linked dominant (MIM#302960) 12509714 False 2 0;100;0 19.48 True ENSG00000147155 ENSG00000147155 HGNC:3133 EMILIN1 gene EMILIN1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type X, MIM# 620080;Peripheral neuropathy;aortic aneurysm 31978608;26462740 False 2 50;50;0 19.48 True ENSG00000138080 ENSG00000138080 HGNC:19880 EMX2 gene EMX2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schizencephaly, MIM# 269160 8528262;9359037;9153481;9153481;18409201 False 2 0;100;0 19.48 True ENSG00000170370 ENSG00000170370 HGNC:3341 EPM2A gene EPM2A Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780;Progressive Myoclonic Epilepsy;Parkinsonism 27574708;28818698 False 2 50;50;0 19.48 True ENSG00000112425 ENSG00000112425 HGNC:3413 ERAL1 gene ERAL1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 6, MIM# 617565" 28449065 False 2 0;100;0 19.48 True ENSG00000132591 ENSG00000132591 HGNC:3424 ERBB4 gene ERBB4 Expert Review Amber;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 19 MIM#615515 24119685;28889094 False 2 100;0;0 19.48 True ENSG00000178568 ENSG00000178568 HGNC:3432 ERCC2 gene ERCC2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 1, photosensitive 601675 29451896 False 2 0;100;0 19.48 False ENSG00000104884 ENSG00000104884 HGNC:3434 ETFB gene ETFB Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB 231680 12815589;7912128 False 2 0;100;0 19.48 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIC 231680" PMID: 19592060;17412732 False 2 50;50;0 19.48 True ENSG00000171503 ENSG00000171503 HGNC:3483 EXOSC3 gene EXOSC3 Expert Review Amber;Expert list;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 1B 614678;Intellectual disability;Microcephaly;Hypotonia;Mitochondrial dysfunction" 28687512 False 2 0;100;0 19.48 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC3 gene EXOSC3 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1b;dHMN/dSMA False 2 0;100;0 19.48 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC3 gene EXOSC3 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1b;Complicated hereditary spastic paraplegia 25149867;23975261 False 2 0;100;0 19.48 True ENSG00000107371 ENSG00000107371 HGNC:17944 FAM126A gene FAM126A Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMSN;Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV;Leukodystrophy, hypomyelinating, 5, 610532 False 2 0;0;100 19.48 True ENSG00000122591 ENSG00000122591 HGNC:24587 FAM50A gene FAM50A Expert Review Green;Literature;Expert Review Amber;Literature Progressive Neurological Conditions 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) Mental retardation syndrome, X-linked, Armfield type (MIM #300261) 32703943 False 2 0;100;0 19.48 True ENSG00000071859 ENSG00000071859 HGNC:18786 FAR1 gene FAR1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 25439727 False 2 0;100;0 19.48 True ENSG00000197601 ENSG00000197601 HGNC:26222 FBP2 gene FBP2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Leukodystrophy, childhood-onset, remitting, MIM# 619864" 33977262 False 2 0;100;0 19.48 True ENSG00000130957 ENSG00000130957 HGNC:3607 FBXL4 gene FBXL4 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 False 2 0;100;0 19.48 True ENSG00000112234 ENSG00000112234 HGNC:13601 FBXO38 gene FBXO38 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type IID, 615575;dHMN/dSMA False 2 0;100;0 19.48 True ENSG00000145868 ENSG00000145868 HGNC:28844 FDX2 gene FDX2 Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900)" 30010796;24281368;28803783 False 2 0;100;0 19.48 True ENSG00000267673 ENSG00000267673 HGNC:30546 FDX2 gene FDX2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 30010796 False 2 0;100;0 19.48 True ENSG00000267673 ENSG00000267673 HGNC:30546 FDXR gene FDXR Expert Review Amber;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, 617717;Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 30250212;28965846;29040572;33348459;37046037;37481223 False 2 0;50;50 19.48 True ENSG00000161513 ENSG00000161513 HGNC:3642 FECH gene FECH NHS Genomic Medicine Service;Expert Review Amber;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal EPP1;177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 20857522;26387792;28614581 False 2 0;0;0 19.48 False ENSG00000066926 ENSG00000066926 HGNC:3647 FIG4 gene FIG4 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945;MIM#612577) False 2 100;0;0 19.48 True ENSG00000112367 ENSG00000112367 HGNC:16873 FKRP gene FKRP Expert Review Green;Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153 False 2 50;50;0 19.48 True ENSG00000181027 ENSG00000181027 HGNC:17997 FRA10AC1 gene FRA10AC1 Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113" 34694367;35871492;35821753 False 2 0;100;0 19.48 True ENSG00000148690 ENSG00000148690 HGNC:1162 FXYD2 gene FXYD2 Expert Review Amber Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism 17980699, 12763862, 18448590, 11062458, 25765846, 27014088 False 2 0;0;0 19.48 False ENSG00000137731 ENSG00000137731 HGNC:4026 GALC gene GALC Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Krabbe Disease MIM#245200 20301416;21070211 False 2 0;100;0 19.48 True ENSG00000054983 ENSG00000054983 HGNC:4115 GATAD2B gene GATAD2B Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 18, OMIM # 615074 32688057 False 2 0;100;0 19.48 True ENSG00000143614 ENSG00000143614 HGNC:30778 GATM gene GATM Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, MIM# 612718 36856349;12468279;20682460;22386973 False 2 0;100;0 19.48 True ENSG00000171766 ENSG00000171766 HGNC:4175 GBA gene GBA Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Other {Lewy body dementia, susceptibility to} (MIM# 127750) 23588557;32439597;31010158 False 2 0;100;0 19.48 True ENSG00000177628 ENSG00000177628 HGNC:4177 GCDH gene GCDH Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria, type I, MIM#231670 False 2 0;100;0 19.48 True ENSG00000105607 ENSG00000105607 HGNC:4189 GFPT1 gene GFPT1 Expert Review Amber;Expert list;Expert Review Green;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates 610542;Leukoencephalopathy 30635494 False 2 50;50;0 19.48 False ENSG00000198380 ENSG00000198380 HGNC:4241 GGT1 gene GGT1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutathioninuria MIM#231950;Disorders of the gamma-glutamyl cycle 31520399;27604308;23615310;29483667 False 2 0;100;0 19.48 True ENSG00000100031 ENSG00000100031 HGNC:4250 GJC2 gene GJC2 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2, 608804, AR;Spastic paraplegia 44, autosomal recessive 613206, AR 19056803;23684670 False 2 0;100;0 19.48 True ENSG00000198835 ENSG00000198835 HGNC:17494 GJC2 gene GJC2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 44, autosomal recessive, MIM# 613206" 19056803;31431325;25059390 False 2 0;100;0 19.48 True ENSG00000198835 ENSG00000198835 HGNC:17494 GLA gene GLA Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry disease, MIM# 301500 32734340;24372060;30532363 False 2 0;100;0 19.48 True ENSG00000102393 ENSG00000102393 HGNC:4296 GLT8D1 gene GLT8D1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 30811981 False 2 50;50;0 19.48 True ENSG00000016864 ENSG00000016864 HGNC:24870 GMPPA gene GMPPA Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) 24035193;28574218 False 2 0;100;0 19.48 True ENSG00000144591 ENSG00000144591 HGNC:22923 GPSM2 gene GPSM2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, MIM# 604213 20602914;22578326;28387217;27180139;27064331 False 2 0;100;0 19.48 True ENSG00000121957 ENSG00000121957 HGNC:29501 GSX2 gene GSX2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Diencephalic-mesencephalic junction dysplasia syndrome 2 618646;Intellectual disability;Dystonia;Spastic tetra paresis" 31412107 False 2 0;100;0 19.48 True ENSG00000180613 ENSG00000180613 HGNC:24959 GTPBP2 gene GTPBP2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome, MIM# 617988 26675814;29449720 False 2 50;50;0 19.48 True ENSG00000172432 ENSG00000172432 HGNC:4670 HACE1 gene HACE1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 26424145;26437029 False 2 0;100;0 19.48 True ENSG00000085382 ENSG00000085382 HGNC:21033 HADHB gene HADHB Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300 37388542;36063482;24664533 False 2 0;50;50 19.48 True ENSG00000138029 ENSG00000138029 HGNC:4803 HAL gene HAL Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Histidinemia MIM#235800;Disorders of histidine, tryptophan or lysine metabolism 27604308;15806399;20156889 False 2 100;0;0 19.48 True ENSG00000084110 ENSG00000084110 HGNC:4806 HARS gene HARS Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal multisystem ataxic syndrome 32333447 False 2 33;67;0 19.48 True ENSG00000170445 ENSG00000170445 HGNC:4816 HBB gene HBB Genomics England PanelApp;Expert Review Amber Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sickle cell anemia 603903 20301551 False 2 0;0;100 19.48 False ENSG00000244734 ENSG00000244734 HGNC:4827 HCCS gene HCCS Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders Other Linear skin defects with multiple congenital anomalies 1, 309801 17033964 False 2 0;100;0 19.48 True ENSG00000004961 ENSG00000004961 HGNC:4837 HDAC8 gene HDAC8 Expert Review Amber;Expert list Progressive Neurological Conditions 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) Cornelia de Lange syndrome 5, MIM# 300882 False 2 0;100;0 19.48 True ENSG00000147099 ENSG00000147099 HGNC:13315 HEATR5B gene HEATR5B Expert Review Amber;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia;intellectual disability;seizures 33824466 False 2 0;100;0 19.48 True ENSG00000008869 ENSG00000008869 HGNC:29273 HNRNPA1 gene HNRNPA1 Expert Review Amber;Other Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424;Amyotrophic lateral sclerosis 20 MIM#615426 24612671;24119545;23455423 False 2 0;0;100 19.48 True ENSG00000135486 ENSG00000135486 HGNC:5031 HNRNPA2B1 gene HNRNPA2B1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 23455423;30279180;29358076;26744327;23635965 False 2 0;100;0 19.48 True ENSG00000122566 ENSG00000122566 HGNC:5033 HNRNPA2B1 gene HNRNPA2B1 Expert Review Amber;ClinGen Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 25299611 False 2 0;0;100 19.48 True ENSG00000122566 ENSG00000122566 HGNC:5033 HNRNPK gene HNRNPK Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Au-Kline syndrome MIM#616580 30998304;26173930;29904177;26954065;28771707 False 2 0;100;0 19.48 True ENSG00000165119 ENSG00000165119 HGNC:5044 HOXA1 gene HOXA1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 False 2 0;100;0 19.48 True ENSG00000105991 ENSG00000105991 HGNC:5099 HPRT1 gene HPRT1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome 27858372 False 2 50;50;0 19.48 True ENSG00000165704 ENSG00000165704 HGNC:5157 HSPD1 gene HSPD1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 13, autosomal dominant, MIM# 605280 26900593;11898127;17420924 False 2 0;100;0 19.48 True ENSG00000144381 ENSG00000144381 HGNC:5261 HYAL1 gene HYAL1 Expert Review Amber;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IX, MIM# 601492;MONDO:0011093 10339581;18344557;21559944 False 2 0;100;0 19.48 True ENSG00000114378 ENSG00000114378 HGNC:5320 IDH3B gene IDH3B Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, MIM# 612572 18806796;31736247 False 2 0;100;0 19.48 True ENSG00000101365 ENSG00000101365 HGNC:5385 IRF2BPL gene IRF2BPL Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088" PMID: 30057031;30166628 False 2 0;100;0 19.48 True ENSG00000119669 ENSG00000119669 HGNC:14282 ITM2B gene ITM2B Expert Review Amber;Other Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ABri amyloidosis MONDO:0008306 10775542 False 2 0;100;0 19.48 True Other ENSG00000136156 ENSG00000136156 HGNC:6174 JAKMIP1 gene JAKMIP1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related 29158550;26627310;27799067 False 2 0;100;0 19.48 True ENSG00000152969 ENSG00000152969 HGNC:26460 JMJD1C gene JMJD1C Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability (MONDO#0001071), JMJD1C-related PMID: 32996679;26181491;31954878 False 2 0;100;0 19.48 True ENSG00000171988 ENSG00000171988 HGNC:12313 KARS gene KARS Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641;MONDO:0013338) 20920668 False 2 0;100;0 19.48 True ENSG00000065427 ENSG00000065427 HGNC:6215 KCNB2 gene KCNB2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, KCNB2-related 38503299 False 2 0;100;0 19.48 True ENSG00000182674 ENSG00000182674 HGNC:6232 KCNJ3 gene KCNJ3 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy (MONDO#0005027), KCNJ3-related PMID: 37963718 False 2 0;100;0 19.48 True ENSG00000162989 ENSG00000162989 HGNC:6264 KCNQ2 gene KCNQ2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 7 MIM#613720 12742592;32585800 False 2 0;100;0 19.48 True ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ2 gene KCNQ2 Expert Review Amber;Expert list;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 7, 613720;Myokymia, 121200 22169383;20962009;10575255 False 2 33;67;0 19.48 True ENSG00000075043 ENSG00000075043 HGNC:6296 KHK gene KHK Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fructosuria MIM#229800;Disorders of fructose metabolism 7833921;27604308;29870677 False 2 0;100;0 19.48 True ENSG00000138030 ENSG00000138030 HGNC:6315 KIF1C gene KIF1C Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic ataxia 2, autosomal recessive, MIM# 611302" 31413903 False 2 0;100;0 19.48 True ENSG00000129250 ENSG00000129250 HGNC:6317 KIF4A gene KIF4A Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 100 MIM#300923 24812067;34346154;36482480 False 2 0;100;0 19.48 True ENSG00000090889 ENSG00000090889 HGNC:13339 KIF5A gene KIF5A Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 10, autosomal dominant MIM#604187 18853458 False 2 0;100;0 19.48 True ENSG00000155980 ENSG00000155980 HGNC:6323 KIF5A gene KIF5A Expert Review Amber;Other Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060670 33077544;36604770 False 2 0;100;0 19.48 True Other ENSG00000155980 ENSG00000155980 HGNC:6323 KLHL9 gene KLHL9 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy MONDO:0018949 20554658 False 2 0;100;0 19.48 True ENSG00000198642 ENSG00000198642 HGNC:18732 LAMB1 gene LAMB1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cystic leukoencephalopathy 29888467;25925986 False 2 0;100;0 19.48 True ENSG00000091136 ENSG00000091136 HGNC:6486 LAMP2 gene LAMP2 Expert Review Green;Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease (MIM#300257) 27179547;22541782 False 2 50;50;0 19.48 True ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 Expert Review Green;Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840 False 2 50;50;0 19.48 True ENSG00000133424 ENSG00000133424 HGNC:6511 LGALSL gene LGALSL Expert Review Amber;ClinGen Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown amyotrophic lateral sclerosis MONDO:0004976 30940688 False 2 0;100;0 19.48 True ENSG00000119862 ENSG00000119862 HGNC:25012 LMNA gene LMNA Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 2B1 , MIM#605588 11799477;28902413 False 2 0;100;0 19.48 True ENSG00000160789 ENSG00000160789 HGNC:6636 LMNB1 gene LMNB1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Microcephaly;Short stature;Seizures;Abnormality of the corpus callosum;Cortical gyral simplification;Feeding difficulties;Scoliosis 32910914 False 2 0;100;0 19.48 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113368 ENSG00000113368 HGNC:6637 LMNB2 gene LMNB2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 9 MIM#616540 PMID: 33783721;25954030;34466237 False 2 0;100;0 19.48 True ENSG00000176619 ENSG00000176619 HGNC:6638 LPIN1 gene LPIN1 Expert Review Green;Expert Review Amber;Expert Review;Expert Review Green;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) 28649549;18817903;32410653 False 2 67;33;0 19.48 True ENSG00000134324 ENSG00000134324 HGNC:13345 LRIF1 gene LRIF1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy MONDO:0001347 32467133 False 2 0;100;0 19.48 True ENSG00000121931 ENSG00000121931 HGNC:30299 LRPPRC gene LRPPRC Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) (MIM#220111) 21266382;26510951;38046674;29152527 False 2 0;100;0 19.48 True ENSG00000138095 ENSG00000138095 HGNC:15714 LSM7 gene LSM7 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal leukodystrophy MONDO:0019046, LRM7-related https://doi.org/10.1016/j.xhgg.2021.100034;39420558 False 2 0;50;50 19.48 True ENSG00000130332 ENSG00000130332 HGNC:20470 LYRM4 gene LYRM4 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 19, MIM# 615595 23814038;31497476 False 2 0;100;0 19.48 True ENSG00000214113 ENSG00000214113 HGNC:21365 LYST gene LYST Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, MIM#214500 10450360 False 2 50;50;0 19.48 True ENSG00000143669 ENSG00000143669 HGNC:1968 LYST gene LYST Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;Spastic paraplegia;Chediak-Higashi syndrome, 214500 26307451;24521565 False 2 0;100;0 19.48 True ENSG00000143669 ENSG00000143669 HGNC:1968 MAL gene MAL Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 28, MIM# 620978 35217805 False 2 0;100;0 19.48 True ENSG00000172005 ENSG00000172005 HGNC:6817 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related 37503746 False 2 0;100;0 19.48 True ENSG00000165072 ENSG00000165072 HGNC:23673 MAN2B2 gene MAN2B2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related 38622837;35637269;31775018 False 2 0;100;0 19.48 True ENSG00000013288 ENSG00000013288 HGNC:29623 MANBA gene MANBA Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta, MIM#248510 12468273;22369051 False 2 0;100;0 19.48 True ENSG00000109323 ENSG00000109323 HGNC:6831 MAPK8IP3 gene MAPK8IP3 Expert Review Amber;Literature;Expert Review Green;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without variable brain abnormalities MIM#618443 PMID: 30612693 False 2 50;50;0 19.48 True ENSG00000138834 ENSG00000138834 HGNC:6884 MAPK8IP3 gene MAPK8IP3 Expert Review Amber;Literature;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 30612693;30945334 False 2 0;100;0 19.48 True ENSG00000138834 ENSG00000138834 HGNC:6884 MAPT gene MAPT Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dementia, frontotemporal, with or without parkinsonism MIM#600274 17319286;15883319 False 2 0;100;0 19.48 True ENSG00000186868 ENSG00000186868 HGNC:6893 MARS gene MARS Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 70, autosomal recessive, MIM# 620323 24482476;34585293 False 2 0;50;50 19.48 True ENSG00000166986 ENSG00000166986 HGNC:6898 MARS2 gene MARS2 Expert Review Green;Expert list;Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 25, OMIM #616430;Spastic ataxia 3, autosomal recessive, OMIM #611390 25754315 False 2 0;100;0 19.48 True ENSG00000247626 ENSG00000247626 HGNC:25133 MATR3 gene MATR3 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 21 MIM#606070;frontotemporal dementia;multisystem proteinopathy 24686783;30015619;28029397;33408686 False 2 0;100;0 19.48 True ENSG00000015479 ENSG00000015479 HGNC:6912 MCOLN1 gene MCOLN1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, 252650 False 2 0;100;0 19.48 True ENSG00000090674 ENSG00000090674 HGNC:13356 MDH1 gene MDH1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal epilepsy;microcephaly;intellectual disability;Epileptic encephalopathy, early infantile, 88, MIM#618959 31538237 False 2 0;100;0 19.48 True ENSG00000014641 ENSG00000014641 HGNC:6970 MFF gene MFF Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086 26783368 False 2 0;0;100 19.48 True ENSG00000168958 ENSG00000168958 HGNC:24858 MICAL1 gene MICAL1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant epilepsy with auditory features (ADEAF) 29394500;21638339 False 2 0;100;0 19.48 True ENSG00000135596 ENSG00000135596 HGNC:20619 MKKS gene MKKS Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6, 605231 15637713 False 2 67;33;0 19.48 True ENSG00000125863 ENSG00000125863 HGNC:7108 MLC1 gene MLC1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts (MLC);General Leukodystrophy & Mitochondrial Leukoencephalopathy 11254442;21419380;21624973 False 2 0;100;0 19.48 True ENSG00000100427 ENSG00000100427 HGNC:17082 MOCS1 gene MOCS1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A, MIM# 252150 27289259 False 2 0;50;50 19.48 True ENSG00000124615 ENSG00000124615 HGNC:7190 MPC2 gene MPC2 Expert Review Amber;Literature;Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related 36417180 False 2 0;100;0 19.48 True ENSG00000143158 ENSG00000143158 HGNC:24515 MRPL50 gene MRPL50 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO: 004470, MRPL50-related PMID: 37148394 False 2 0;100;0 19.48 True ENSG00000136897 ENSG00000136897 HGNC:16654 MRPS14 gene MRPS14 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 38, MIM# 618378" 30358850 False 2 0;100;0 19.48 True ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Australian Genomcis Health Alliance Leukodystrophy Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2;OMIM #610498 28749478;15505824 False 2 0;0;100 19.48 True ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS7 gene MRPS7 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 34, MIM# 617872 25556185;36421788 False 2 0;50;50 19.48 True ENSG00000125445 ENSG00000125445 HGNC:14499 MTCL1 gene MTCL1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spinocerebellar ataxia 30548255;28283581 False 2 0;100;0 19.48 True ENSG00000168502 ENSG00000168502 HGNC:29121 MTPAP gene MTPAP Expert Review Green;Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Ataxia, spastic, 4,;Autosomal recessive spastic ataxia 4, 613672 20970105;26319014;25008111 False 2 50;50;0 19.48 True ENSG00000107951 ENSG00000107951 HGNC:25532 MYO9B gene MYO9B Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related PMID: 36260368 False 2 0;100;0 19.48 True ENSG00000099331 ENSG00000099331 HGNC:7609 NAGA gene NAGA Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Schindler disease, type I and type II 609241 8782044;31468281;15619430;31890708;11313741 False 2 33;33;33 19.48 True ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert Review Amber;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920;Late-onset painful sensory neuropathy, AD 25818867;12202988 False 2 0;100;0 19.48 True ENSG00000108784 ENSG00000108784 HGNC:7632 NAGLU gene NAGLU Expert Review Green;Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491;HSAN/SFN False 2 50;50;0 19.48 True ENSG00000108784 ENSG00000108784 HGNC:7632 NDUFA11 gene NDUFA11 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 18306244;31074871 False 2 0;100;0 19.48 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA2 gene NDUFA2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235;Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 28857146;32154054;18513682 False 2 0;100;0 19.48 True ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA2 gene NDUFA2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13 618235;leukoencephalopathy 28857146;32154054;18513682 False 2 0;100;0 19.48 True ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA8 gene NDUFA8 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272;Developmental delay;microcehaly;seizures 32385911;33153867 False 2 0;100;0 19.48 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFA8 gene NDUFA8 Expert Review Amber;Literature;Expert list;Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37 - 619272;Epilepsy;Microcephaly;Developmental Delay 32385911;33153867 False 2 0;100;0 19.48 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFAF3 gene NDUFAF3 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 False 2 50;50;0 19.48 True ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 28853723;19463981 False 2 50;50;0 19.48 True ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFB7 gene NDUFB7 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital lactic acidosis;hypertrophic cardiomyopathy 33502047;27626371 False 2 0;100;0 19.48 True ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB9 gene NDUFB9 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 22200994;38129218 False 2 0;100;0 19.48 True ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFC2 gene NDUFC2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170" 32969598 False 2 0;100;0 19.48 True ENSG00000151366 ENSG00000151366 HGNC:7706 NDUFS1 gene NDUFS1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 False 2 50;50;0 19.48 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 23266820;22036843;20819849 False 2 50;50;0 19.48 True ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS6 gene NDUFS6 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 15372108;19259137;27290639 False 2 50;50;0 19.48 True ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, MIM#256000 17604671;17275378;15269216 False 2 50;50;0 19.48 True ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFV2 gene NDUFV2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229 33811136;34405929;12754703;26008862;30770271;19167255 False 2 0;100;0 19.48 True ENSG00000178127 ENSG00000178127 HGNC:7717 NECAP1 gene NECAP1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 21, MIM#615833 24399846;30626896;30525121 False 2 0;100;0 19.48 True ENSG00000089818 ENSG00000089818 HGNC:24539 NF1 gene NF1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1 (MIM#162200) 34944956 False 2 0;0;100 19.48 True ENSG00000196712 ENSG00000196712 HGNC:7765 NHLRC1 gene NHLRC1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780;Lafora disease;Progressive Myoclonic Epilepsy;Parkinsonism 22425593;32301727 False 2 50;50;0 19.48 True ENSG00000187566 ENSG00000187566 HGNC:21576 NMNAT2 gene NMNAT2 Expert Review Amber;Research;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal polyneuropathy;erythromelalgia 31132363;25271157;20126265 False 2 0;100;0 19.48 True ENSG00000157064 ENSG00000157064 HGNC:16789 NNT gene NNT Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 26309815;22634753 False 2 67;33;0 19.48 True ENSG00000112992 ENSG00000112992 HGNC:7863 NPC2 gene NPC2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2 607625 25396745 False 2 0;100;0 19.48 True ENSG00000119655 ENSG00000119655 HGNC:14537 NSF gene NSF Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 96, MIM# 619340;Seizures;EEG with burst suppression;Global developmental delay;Intellectual disability 31675180 False 2 0;100;0 19.48 True ENSG00000073969 ENSG00000073969 HGNC:8016 NSUN3 gene NSUN3 Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 48, MIM# 619012 27356879;32488845 False 2 0;100;0 19.48 True ENSG00000178694 ENSG00000178694 HGNC:26208 NUBPL gene NUBPL Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 23553477;20818383 False 2 50;50;0 19.48 True ENSG00000151413 ENSG00000151413 HGNC:20278 NUP54 gene NUP54 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 37, early-onset, with striatal lesions, MIM# 620427;Early onset dystonia;progressive neurological deterioration;ataxia;dysarthria;dysphagia;hypotonia 36333996 False 2 0;100;0 19.48 True ENSG00000138750 ENSG00000138750 HGNC:17359 NUS1 gene NUS1 Expert Review Amber;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1aa, MIM#610463 25066056 False 2 0;100;0 19.48 True ENSG00000153989 ENSG00000153989 HGNC:21042 OFD1 gene OFD1 Expert Review Amber;Literature Progressive Neurological Conditions 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) Orofaciodigital syndrome I (MIM#311200) 23033313;31373179 False 2 0;100;0 19.48 True ENSG00000046651 ENSG00000046651 HGNC:2567 OPLAH gene OPLAH Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 5-oxoprolinase deficiency MIM#260005;Disorders of the gamma-glutamyl cycle 27604308;27477828 False 2 100;0;0 19.48 True ENSG00000178814 ENSG00000178814 HGNC:8149 OTUD5 gene OTUD5 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056 PMID:33748114 False 2 0;100;0 19.48 True ENSG00000068308 ENSG00000068308 HGNC:25402 OTUD7A gene OTUD7A Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790 31997314;29395075;29395074;33381903 False 2 0;67;33 19.48 True ENSG00000169918 ENSG00000169918 HGNC:20718 OTX2 gene OTX2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 5 610125 19965921;15846561 False 2 0;100;0 19.48 True ENSG00000165588 ENSG00000165588 HGNC:8522 OXA1L gene OXA1L Expert Review Amber;Expert Review Amber;NHS GMS;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal encephalopathy;hypotonia;developmental delay 30201738 False 2 0;100;0 19.48 True ENSG00000155463 ENSG00000155463 HGNC:8526 P4HTM gene P4HTM Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities;OMIM #618493 25078763;30940925;34285383 False 2 0;100;0 19.48 True ENSG00000178467 ENSG00000178467 HGNC:28858 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, PACSIN3-related 38637313 False 2 0;100;0 19.48 True ENSG00000165912 ENSG00000165912 HGNC:8572 PAK2 gene PAK2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Knobloch 2 syndrome MIM#618458 33693784;38894571;38712026 False 2 0;50;50 19.48 True ENSG00000180370 ENSG00000180370 HGNC:8591 PAK3 gene PAK3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 30 (MIM#300558) 17853471;12884430;29246092;25666757 False 2 0;100;0 19.48 True ENSG00000077264 ENSG00000077264 HGNC:8592 PANK2 gene PANK2 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1, MIM# 234200 23968566;29642163;28024710 False 2 0;50;50 19.48 True ENSG00000125779 ENSG00000125779 HGNC:15894 PAX6 gene PAX6 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aniridia (MIM#106210) 34200146;17417613;12731001 False 2 0;100;0 19.48 True ENSG00000007372 ENSG00000007372 HGNC:8620 PCBD1 gene PCBD1 Expert Review Amber;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 9585615 False 2 0;100;0 19.48 True ENSG00000166228 ENSG00000166228 HGNC:8646 PCK2 gene PCK2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy (MONDO#0005244), PCK2-related 36845668 False 2 0;33;67 19.48 True ENSG00000100889 ENSG00000100889 HGNC:8725 PDSS2 gene PDSS2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown Coenzyme Q10 deficiency, primary, 3, MIM#614652 17186472;29032433 False 2 50;50;0 19.48 True ENSG00000164494 ENSG00000164494 HGNC:23041 PFKM gene PFKM Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII (MIM#232800) 24427140;27066546;30792690 False 2 0;100;0 19.48 True ENSG00000152556 ENSG00000152556 HGNC:8877 PGAP2 gene PGAP2 Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 23561846;23561847;31805394;29119105;27871432 False 2 0;100;0 19.48 True ENSG00000148985 ENSG00000148985 HGNC:17893 PGM3 gene PGM3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Idiopathic focal epilepsy;Immunodeficiency 23, MIM# 615816" 33193641;24589341 False 2 0;100;0 19.48 True ENSG00000013375 ENSG00000013375 HGNC:8907 PIGM gene PIGM Expert Review Amber;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, MIM# 610293;portal vein thrombosis;persistent absence seizures;macrocephaly;infantile-onset cerebrovascular thrombotic events;portal vein thrombosis;persistent absence seizures;macrocephaly;infantile-onset cerebrovascular thrombotic events 31445883;16767100 False 2 0;100;0 19.48 True ENSG00000143315 ENSG00000143315 HGNC:18858 PIK3C2B gene PIK3C2B Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial partial epilepsy - MONDO#0017704 PMID: 35786744 False 2 0;100;0 19.48 True ENSG00000133056 ENSG00000133056 HGNC:8972 PKD2 gene PKD2 Genomics England PanelApp;Expert Review Amber Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2 613095 False 2 0;100;0 19.48 False ENSG00000118762 ENSG00000118762 HGNC:9009 PLD3 gene PLD3 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 46 30312375;30312384;29053796 False 2 0;100;0 19.48 False ENSG00000105223 ENSG00000105223 HGNC:17158 PLD3 gene PLD3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy PMID: 34267643 False 2 0;100;0 19.48 False ENSG00000105223 ENSG00000105223 HGNC:17158 PLEKHG2 gene PLEKHG2 Expert Review Amber;Expert Review Amber;Expert list;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy and acquired microcephaly with or without dystonia 616763 26573021 False 2 0;100;0 19.48 False ENSG00000090924 ENSG00000090924 HGNC:29515 PLP1 gene PLP1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pelizaeus-Merzbacher disease (MIM#312080) 20301361;11872612 False 2 0;100;0 19.48 True ENSG00000123560 ENSG00000123560 HGNC:9086 PMP2 gene PMP2 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN;Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 26257172;26828946;27009151 False 2 33;67;0 19.48 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000147588 ENSG00000147588 HGNC:9117 PNPLA6 gene PNPLA6 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 39, autosomal recessive, MIM# 612020" 18313024 False 2 0;100;0 19.48 True ENSG00000032444 ENSG00000032444 HGNC:16268 PNPLA6 gene PNPLA6 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149 32623594;36825042 False 2 0;100;0 19.48 True ENSG00000032444 ENSG00000032444 HGNC:16268 PNPT1 gene PNPT1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spinocerebellar ataxia 25, MIM# 608703" 35411967;37935417 False 2 50;50;0 19.48 True ENSG00000138035 ENSG00000138035 HGNC:23166 POFUT1 gene POFUT1 Expert Review Amber;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dowling-Degos disease 2 (MIM# 615327) 23684010;29452367;25157627 False 2 0;100;0 19.48 True ENSG00000101346 ENSG00000101346 HGNC:14988 POLG gene POLG Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 4a MONDO:0008758" 15477547;14694057;16638794 False 2 0;100;0 19.48 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131 PMID: 21555342 False 2 0;100;0 19.48 True ENSG00000256525 ENSG00000256525 HGNC:9180 POLG2 gene POLG2 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 25655951 False 2 0;100;0 19.48 True ENSG00000256525 ENSG00000256525 HGNC:9180 POLR1A gene POLR1A Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 27, MIM# 620675 28051070;36917474 False 2 0;67;33 19.48 True ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1A gene POLR1A Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acrofacial dysostosis, Cincinnati type MIM#616462 PMID: 37075751 False 2 0;100;0 19.48 True ENSG00000068654 ENSG00000068654 HGNC:17264 POMGNT2 gene POMGNT2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830 PMID: 36808730 False 2 0;50;50 19.48 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249 PMID: 24925318 False 2 0;50;50 19.48 True ENSG00000185900 ENSG00000185900 HGNC:26267 POMK gene POMK Expert Review Green;Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 24556084;24925318;29910097 False 2 50;50;0 19.48 True ENSG00000185900 ENSG00000185900 HGNC:26267 POMT2 gene POMT2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150 False 2 0;100;0 19.48 True ENSG00000009830 ENSG00000009830 HGNC:19743 POU3F3 gene POU3F3 Expert Review Amber;Literature;Expert Review Green;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Snijders Blok-Fisher syndrome MIM#618604" 31303265;33645921 False 2 50;50;0 19.48 True ENSG00000198914 ENSG00000198914 HGNC:9216 PPP1CB gene PPP1CB Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506" 33333793;30236064 False 2 33;67;0 19.48 True ENSG00000213639 ENSG00000213639 HGNC:9282 PPP2R2B gene PPP2R2B Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related 25356899;39565297 False 2 0;100;0 19.48 True ENSG00000156475 ENSG00000156475 HGNC:9305 PPT1 gene PPT1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 256730 5706364;8576553 False 2 0;100;0 19.48 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRICKLE2 gene PRICKLE2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related 34092786;21276947;26942291;26942292 False 2 33;67;0 19.48 True ENSG00000163637 ENSG00000163637 HGNC:20340 PRKCG gene PRKCG Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 14, MIM# 605361 34292398 False 2 0;100;0 19.48 True ENSG00000126583 ENSG00000126583 HGNC:9402 PRPH gene PRPH Expert Review Amber;Expert Review Amber;Expert list;Victorian Clinical Genetics Services;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Amyotrophic lateral sclerosis, susceptibility to}, 105400 20363051;15322088;15446584 False 2 0;100;0 19.48 True ENSG00000135406 ENSG00000135406 HGNC:9461 PRPS1 gene PRPS1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy 33898739;28967191 False 2 33;67;0 19.48 True ENSG00000147224 ENSG00000147224 HGNC:9462 PSAT1 gene PSAT1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency, MIM#610992 17436247;26610677;26960553 False 2 50;50;0 19.48 True ENSG00000135069 ENSG00000135069 HGNC:19129 PSMC3 gene PSMC3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 32500975 False 2 0;100;0 19.48 True ENSG00000165916 ENSG00000165916 HGNC:9549 PSPH gene PSPH NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency, MIM#614023 25080166;26589312;14673469 False 2 50;50;0 19.48 True ENSG00000146733 ENSG00000146733 HGNC:9577 PTF1A gene PTF1A Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pancreatic and cerebellar agenesis, MIM#609069 21749365;15543146;19650412 False 2 0;100;0 19.48 True ENSG00000168267 ENSG00000168267 HGNC:23734 PTPA gene PTPA Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability, MONDO: 36073231, PTPA-related;Parkisonism 36073231;37448355 False 2 0;100;0 19.48 True ENSG00000119383 ENSG00000119383 HGNC:9308 PYGM gene PYGM Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal McArdle disease (MIM#232600) 29143597;25914343 False 2 0;100;0 19.48 True ENSG00000068976 ENSG00000068976 HGNC:9726 RAB32 gene RAB32 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923 38614108;38858457 False 2 0;50;50 19.48 True Other ENSG00000118508 ENSG00000118508 HGNC:9772 RAB3GAP1 gene RAB3GAP1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, MIM#600118 20512159 False 2 0;100;0 19.48 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome, MIM#212720;Warburg micro syndrome 2, MIM#614225 False 2 0;100;0 19.48 True ENSG00000118873 ENSG00000118873 HGNC:17168 RALGAPB gene RALGAPB Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorders, autism PMID: 32853829 False 2 0;100;0 19.48 True ENSG00000170471 ENSG00000170471 HGNC:29221 RBFOX3 gene RBFOX3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related 35951651;36117209;24039908 False 2 0;100;0 19.48 True ENSG00000167281 ENSG00000167281 HGNC:27097 RBL2 gene RBL2 Expert Review Amber;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brunet-Wagner neurodevelopmental syndrome, MIM# 619690 PMID: 33980986;32105419;9806916 False 2 0;67;33 19.48 True ENSG00000103479 ENSG00000103479 HGNC:9894 RBM7 gene RBM7 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal SMA-like spinal motor neuropathy;dHMN/dSMA 27193168 False 2 0;100;0 19.48 True ENSG00000076053 ENSG00000076053 HGNC:9904 RFXANK gene RFXANK Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive Ataxia and Neurologic Regression;MHC class II deficiency, complementation group B MIM#209920 PMID: 33855173;23314770;28676232 False 2 50;50;0 19.48 True ENSG00000064490 ENSG00000064490 HGNC:9987 RNASET2 gene RNASET2 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly, 612951 19525954 False 2 0;100;0 19.48 True ENSG00000026297 ENSG00000026297 HGNC:21686 RNF13 gene RNF13 Expert Review Amber;Literature;Expert Review Green;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis PMID: 35879052 False 2 50;50;0 19.48 True ENSG00000082996 ENSG00000082996 HGNC:10057 RNF2 gene RNF2 Expert Review Amber;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lou-Schoch-Yamamoto syndrome , MIM#619460;epilepsy;intellectual disability;intrauterine growth retardation 33864376 False 2 0;100;0 19.48 True ENSG00000121481 ENSG00000121481 HGNC:10061 RNF216 gene RNF216 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 28334938;26250479 False 2 0;100;0 19.48 True ENSG00000011275 ENSG00000011275 HGNC:21698 RPIA gene RPIA Expert Review Amber;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ribose 5-phosphate isomerase deficiency, MIM 608611 14988808;10589548;20499043;28801340;30088433 False 2 50;50;0 19.48 True ENSG00000153574 ENSG00000153574 HGNC:10297 RRM1 gene RRM1 Expert Review Amber;Expert list;Expert Review Amber Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647" PMID: 35617047 False 2 0;100;0 19.48 True ENSG00000167325 ENSG00000167325 HGNC:10451 RUSC2 gene RUSC2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 61, MIM# 617773" 27612186 False 2 0;100;0 19.48 True ENSG00000198853 ENSG00000198853 HGNC:23625 RYR3 gene RYR3 Expert Review Amber;ClinGen;Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted undetermined early-onset epileptic encephalopathy (MONDO:0018614) 25262651 False 2 0;100;0 19.48 True ENSG00000198838 ENSG00000198838 HGNC:10485 SACS gene SACS Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type MIM#270550 PMID: 27871429;35386405 False 2 0;100;0 19.48 True ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5 MIM#612952 20131292 False 2 0;100;0 19.48 True ENSG00000101347 ENSG00000101347 HGNC:15925 SARDH gene SARDH Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sarcosinemia MIM#268900;Disorders of serine, glycine or glycerate metabolism 22825317;27604308 False 2 100;0;0 19.48 True ENSG00000123453 ENSG00000123453 HGNC:10536 SCO1 gene SCO1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 11013136;19295170;31352446;23878101 False 2 0;100;0 19.48 True ENSG00000133028 ENSG00000133028 HGNC:10603 SCP2 gene SCP2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724;Neurodegeneration with brain iron accumulation;ataxia 26497993;16685654 False 2 0;50;50 19.48 True ENSG00000116171 ENSG00000116171 HGNC:10606 SCP2 gene SCP2 Expert Review Amber;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724 16685654;26497993 False 2 0;50;50 19.48 True ENSG00000116171 ENSG00000116171 HGNC:10606 SDHA gene SDHA Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 10976639;27683074 False 2 0;100;0 19.48 True ENSG00000073578 ENSG00000073578 HGNC:10680 SDHA gene SDHA Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, MIM#256000 False 2 0;100;0 19.48 True ENSG00000073578 ENSG00000073578 HGNC:10680 SEC31A gene SEC31A Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651;congenital neurodevelopmental syndrome;spastic paraplegia;multiple contractures;profound developmental delay;epilepsy;failure to thrive" 30464055 False 2 0;100;0 19.48 True ENSG00000138674 ENSG00000138674 HGNC:17052 SELENOI gene SELENOI Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 81, autosomal recessive 618768;developmental delay;spasticity;periventricular white mater abnormalities;peripheral neuropathy;seizures;bifid uvula in some affected individuals 28052917;29500230 False 2 0;100;0 19.48 True ENSG00000138018 ENSG00000138018 HGNC:29361 SETD5 gene SETD5 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Moya Moya;Mental retardation, autosomal dominant 23, MIM# 615761" 31474762 False 2 0;0;100 19.48 True ENSG00000168137 ENSG00000168137 HGNC:25566 SGMS1 gene SGMS1 Expert Review Amber;Other Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 False 2 0;100;0 19.48 True ENSG00000198964 ENSG00000198964 HGNC:29799 SGPL1 gene SGPL1 Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal RENI syndrome (MIM#617575) 28077491;28165339;30274713;28165343 False 2 0;100;0 19.48 True ENSG00000166224 ENSG00000166224 HGNC:10817 SHPK gene SHPK Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sedoheptulokinase deficiency MIM#617213 25647543;27604308 False 2 0;100;0 19.48 False ENSG00000197417 ENSG00000197417 HGNC:1492 SIX3 gene SIX3 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 2, MIM#157170 False 2 0;100;0 19.48 True ENSG00000138083 ENSG00000138083 HGNC:10889 SLC13A5 gene SLC13A5 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 25 615905 27913086 False 2 0;100;0 19.48 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC1A1 gene SLC1A1 Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dicarboxylic aminoaciduria, MIM#222730 21123949 False 2 0;100;0 19.48 True ENSG00000106688 ENSG00000106688 HGNC:10939 SLC25A10 gene SLC25A10 Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intractable epileptic encephalopathy;Mitochondrial DNA depletion syndrome 19, MIM# 618972 29211846 False 2 0;100;0 19.48 True ENSG00000183048 ENSG00000183048 HGNC:10980 SLC25A21 gene SLC25A21 Expert Review Amber;NHS GMS;Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome-18 MIM#618811 29517768 False 2 0;100;0 19.48 True ENSG00000183032 ENSG00000183032 HGNC:14411 SLC26A2 gene SLC26A2 Expert Review Amber;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia (various) 11241838 False 2 0;100;0 19.48 True ENSG00000155850 ENSG00000155850 HGNC:10994 SLC31A1 gene SLC31A1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration and seizures due to copper transport defect, MIM# 620306 PMID: 35913762;36562171 False 2 0;100;0 19.48 True ENSG00000136868 ENSG00000136868 HGNC:11016 SLC35A1 gene SLC35A1 Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, MIM# 603585 28856833;23873973;11157507 False 2 0;100;0 19.48 True ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A3 gene SLC35A3 Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, mental retardation, and seizures;OMIM #615553 28328131;24031089;28777481 False 2 0;100;0 19.48 True ENSG00000117620 ENSG00000117620 HGNC:11023 SLC35B2 gene SLC35B2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, MONDO:0019046, SLC35B2-related 35325049 False 2 0;100;0 19.48 True ENSG00000157593 ENSG00000157593 HGNC:16872 SLC36A2 gene SLC36A2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria MIM#138500;Iminoglycinuria, digenic MIM#242600;Disorders of amino acid transport 19033659;26141664;27604308 False 2 100;0;0 19.48 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC39A8 gene SLC39A8 Expert Review Amber;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIn MIM#616721" 29453449;27995398 False 2 50;50;0 19.48 True ENSG00000138821 ENSG00000138821 HGNC:20862 SLC45A1 gene SLC45A1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 28434495 False 2 0;100;0 19.48 True ENSG00000162426 ENSG00000162426 HGNC:17939 SLC52A1 gene SLC52A1 Expert Review Amber;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Maternal riboflavin deficiency MONDO:0014013" 37510312;29122468;21089064 False 2 0;50;50 19.48 True ENSG00000132517 ENSG00000132517 HGNC:30225 SLC9A1 gene SLC9A1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Lichtenstein-Knorr Syndrome, MIM# 616291" 25205112;30018422;25760855 False 2 0;100;0 19.48 True ENSG00000090020 ENSG00000090020 HGNC:11071 SLC9A7 gene SLC9A7 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 108, OMIM #301024 30335141 False 2 0;100;0 19.48 True ENSG00000065923 ENSG00000065923 HGNC:17123 SMAD9 gene SMAD9 Genomics England PanelApp;Expert Review Amber Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 19.48 False ENSG00000120693 ENSG00000120693 HGNC:6774 SNIP1 gene SNIP1 Expert Review Amber;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 22279524;34570759 False 2 0;50;50 19.48 True ENSG00000163877 ENSG00000163877 HGNC:30587 SOX10 gene SOX10 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurocristopathy;PCWH syndrome, MIM#609136;Complicated hereditary spastic paraplegia 28534044 False 2 0;100;0 19.48 True ENSG00000100146 ENSG00000100146 HGNC:11190 SPAST gene SPAST Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 4, autosomal dominant 182601 23968121 False 2 0;100;0 19.48 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPEN gene SPEN Expert Review Amber;Literature;Expert Review Green;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radio-Tartaglia syndrome MIM#619312 PMID: 33596411 False 2 40;60;0 19.48 True ENSG00000065526 ENSG00000065526 HGNC:17575 SPG7 gene SPG7 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive 607259 20108356;17646629 False 2 0;100;0 19.48 True ENSG00000197912 ENSG00000197912 HGNC:11237 SPTSSA gene SPTSSA Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 90B, autosomal recessive , MIM# 620417;Spastic paraplegia 90A, autosomal dominant, MIM# 620416 36718090 False 2 50;50;0 19.48 True ENSG00000165389 ENSG00000165389 HGNC:20361 SQOR gene SQOR Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh-like disorder;Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221 32160317 False 2 0;100;0 19.48 True ENSG00000137767 ENSG00000137767 HGNC:20390 SQSTM1 gene SQSTM1 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437) 22084127;22972638 False 2 0;100;0 19.48 True ENSG00000161011 ENSG00000161011 HGNC:11280 SQSTM1 gene SQSTM1 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640" False 2 100;0;0 19.48 True ENSG00000161011 ENSG00000161011 HGNC:11280 SQSTM1 gene SQSTM1 Expert Review Amber;Literature;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myopathy, distal, with rimmed vacuoles MONDO:0014945;multisystem proteinopathy 29599744;26208961;29457785 False 2 33;33;33 19.48 True Other ENSG00000161011 ENSG00000161011 HGNC:11280 SRD5A3 gene SRD5A3 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Iq, MIM# 612379" 26219881 False 2 0;100;0 19.48 True ENSG00000128039 ENSG00000128039 HGNC:25812 SS18L1 gene SS18L1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis (MONDO:0004976) 25888396;24360741;23708140;30976389 False 2 50;50;0 19.48 True ENSG00000184402 ENSG00000184402 HGNC:15592 SSR3 gene SSR3 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 30945312 False 2 0;100;0 19.48 True ENSG00000114850 ENSG00000114850 HGNC:11325 ST3GAL3 gene ST3GAL3 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 15 , MIM#615006 23252400;31584066 False 2 0;100;0 19.48 True ENSG00000126091 ENSG00000126091 HGNC:10866 STX5 gene STX5 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation MONDO#0015286, STX5-related 34711829 False 2 0;100;0 19.48 True ENSG00000162236 ENSG00000162236 HGNC:11440 SUCLA2 gene SUCLA2 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791;MIM#612073); Leigh -like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy 20301762;35235001 False 2 0;50;50 19.48 True ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400 26475597;27484306 False 2 50;50;0 19.48 True ENSG00000163541 ENSG00000163541 HGNC:11449 SUGCT gene SUGCT Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria III MIM#231690;Organic acidurias 28766179;18926513;33483254;32779420;27604308 False 2 100;0;0 19.48 True ENSG00000175600 ENSG00000175600 HGNC:16001 SV2A gene SV2A Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, SV2A-related;Developmental and epileptic encephalopathy 113, MIM# 620772 PMID: 37985816 False 2 0;100;0 19.48 True ENSG00000159164 ENSG00000159164 HGNC:20566 SVIL gene SVIL Expert Review Amber;Other;Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10 (MIM#619040) 32779703 False 2 0;100;0 19.48 True ENSG00000197321 ENSG00000197321 HGNC:11480 SYNCRIP gene SYNCRIP Expert Review Green;Literature;Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related;Global developmental delay;Intellectual disability;Autism;Myoclonic atonic seizures;Abnormality of nervous system morphology 34157790;30504930;27479843;23020937 False 2 33;67;0 19.48 True ENSG00000135316 ENSG00000135316 HGNC:16918 SYNGAP1 gene SYNGAP1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant mental retardation 5, 612621 26989088 False 2 0;100;0 19.48 True ENSG00000197283 ENSG00000197283 HGNC:11497 TAF15 gene TAF15 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis;Frontotemporal dementia 28889094 False 2 0;100;0 19.48 False ENSG00000172660 ENSG00000270647 HGNC:11547 TAF15 gene TAF15 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 21438137;22065782;27810362;28889094 False 2 0;100;0 19.48 True ENSG00000172660 ENSG00000270647 HGNC:11547 TBC1D20 gene TBC1D20 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, MIM#615663 24239381 False 2 0;100;0 19.48 True ENSG00000125875 ENSG00000125875 HGNC:16133 TCEAL1 gene TCEAL1 Expert Review Amber;Literature Progressive Neurological Conditions 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) Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094 PMID: 36368327 False 2 0;100;0 19.48 True ENSG00000172465 ENSG00000172465 HGNC:11616 TDP1 gene TDP1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 31182267;12244316 False 2 0;100;0 19.48 True ENSG00000042088 ENSG00000042088 HGNC:18884 TDP1 gene TDP1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 31182267;12244316 False 2 0;100;0 19.48 True ENSG00000042088 ENSG00000042088 HGNC:18884 TFRC gene TFRC Expert Review Amber Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Disorders of iron metabolism;TFRC-related combined immunodeficiency MONDO:0014760 26642240 False 2 0;0;0 19.48 False ENSG00000072274 ENSG00000072274 HGNC:11763 THAP1 gene THAP1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cervical dystonia;dystonia;dystonic tremor 38094642;33665847 False 2 100;0;0 19.48 True ENSG00000131931 ENSG00000131931 HGNC:20856 THG1L gene THG1L Expert Review Amber;Literature;Expert list;Expert Review Green;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 28 - 618800;Epilepsy;Intellectual disability 33682303 False 2 50;50;0 19.48 True ENSG00000113272 ENSG00000113272 HGNC:26053 THOC2 gene THOC2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 12 MIM#300957 PMID: 26166480;29851191 False 2 0;100;0 19.48 True ENSG00000125676 ENSG00000125676 HGNC:19073 THSD1 gene THSD1 Genomics England PanelApp;Expert Review Amber Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown subarachnoid hemorrhage 27895300 False 2 0;100;0 19.48 False ENSG00000136114 ENSG00000136114 HGNC:17754 TIA1 gene TIA1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133" 29235362;29886022;29773329;29699721;29216908;24659297;29457785;28817800 False 2 0;100;0 19.48 True ENSG00000116001 ENSG00000116001 HGNC:11802 TIA1 gene TIA1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal distal myopathy, Welander type MONDO:0011466 23401021 False 2 0;100;0 19.48 True Other ENSG00000116001 ENSG00000116001 HGNC:11802 TIA1 gene TIA1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders Other Multisystem proteinopathy 36861178;29599744;29457785 False 2 0;100;0 19.48 True ENSG00000116001 ENSG00000116001 HGNC:11802 TIMM22 gene TIMM22 Expert Review Amber;Expert Review Amber;NHS GMS;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hypotonia;gastroesophageal reflux disease 30452684 False 2 0;100;0 19.48 True ENSG00000177370 ENSG00000177370 HGNC:17317 TLK2 gene TLK2 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Intellectual developmental disorder, autosomal dominant 57 MIM#618050" 37662408;31558842 False 2 0;100;0 19.48 True ENSG00000146872 ENSG00000146872 HGNC:11842 TMEM106B gene TMEM106B Expert Review Green;Expert Review Amber;Literature;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 16 (MIM #617964) 29186371;29444210;32595021 False 2 50;50;0 19.48 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106460 ENSG00000106460 HGNC:22407 TMEM138 gene TMEM138 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 16, MIM# 614465" False 2 0;100;0 19.48 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM231 gene TMEM231 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;Meckel syndrome 11 615397 False 2 0;100;0 19.48 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM43 gene TMEM43 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677 21391237;30311943 False 2 0;100;0 19.48 True ENSG00000170876 ENSG00000170876 HGNC:28472 TMEM65 gene TMEM65 Expert Review Amber;Expert Review Amber;NHS GMS;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy 28295037 False 2 0;100;0 19.48 True ENSG00000164983 ENSG00000164983 HGNC:25203 TMEM70 gene TMEM70 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052 18953340;21147908 False 2 0;100;0 19.48 True ENSG00000175606 ENSG00000175606 HGNC:26050 TNK2 gene TNK2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal severe infantile onset epilepsy 27977884;23686771 False 2 0;100;0 19.48 True ENSG00000061938 ENSG00000061938 HGNC:19297 TNNT1 gene TNNT1 Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Nemaline myopathy 5, Amish type MIM#605355" 31970803 False 2 50;50;0 19.48 True ENSG00000105048 ENSG00000105048 HGNC:11948 TOMM7 gene TOMM7 Expert Review Amber;Literature;Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, MIM# 620601 36299998;36282599 False 2 0;100;0 19.48 True ENSG00000196683 ENSG00000196683 HGNC:21648 TOMM70 gene TOMM70 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted White matter abnormalities;Developmental delay;Regression;Movement disorder 32356556 False 2 0;100;0 19.48 True ENSG00000154174 ENSG00000154174 HGNC:11985 TOMM70 gene TOMM70 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Severe anaemia;Lactic acidosis;Developmental delay 31907385 False 2 0;100;0 19.48 True ENSG00000154174 ENSG00000154174 HGNC:11985 TRAF7 gene TRAF7 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac, facial, and digital anomalies with developmental delay, MIM#618164 29961569;27479843;28135719;25363760;25961944 False 2 0;100;0 19.48 True ENSG00000131653 ENSG00000131653 HGNC:20456 TRAPPC11 gene TRAPPC11 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356 23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880 False 2 50;50;0 19.48 True ENSG00000168538 ENSG00000168538 HGNC:25751 TRIP12 gene TRIP12 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Intellectual developmental disorder, autosomal dominant 49 MIM#617752" PMID: 36275919;32424948 False 2 0;100;0 19.48 True ENSG00000153827 ENSG00000153827 HGNC:12306 TRIP13 gene TRIP13 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, MIM# 617598 28553959 False 2 50;50;0 19.48 True ENSG00000071539 ENSG00000071539 HGNC:12307 TRPA1 gene TRPA1 Expert Review Amber;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial episodic pain syndrome type I;Episodic pain syndrome, familial, 615040 28314413;21468319;24778270;20718100;16564016;28436534;24564660;20547126 False 2 0;100;0 19.48 True ENSG00000104321 ENSG00000104321 HGNC:497 TRPC3 gene TRPC3 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 25477146;26112884 False 2 0;100;0 19.48 True ENSG00000138741 ENSG00000138741 HGNC:12335 TRPV1 gene TRPV1 Expert Review Amber;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exertional heat stroke;rhabdomyolysis 32471784 False 2 0;33;67 19.48 True ENSG00000196689 ENSG00000196689 HGNC:12716 TSEN15 gene TSEN15 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F MIM#617026 PMID: 27392077 False 2 0;100;0 19.48 True ENSG00000198860 ENSG00000198860 HGNC:16791 TUBB4A gene TUBB4A Expert Review Amber;Expert list;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ataxia;Leukodystrophy, hypomyelinating, 612438 AD;Dystonia 4, torsion, autosomal dominant, 128101 23582646;24850488 False 2 0;100;0 19.48 True ENSG00000104833 ENSG00000104833 HGNC:20774 TWNK gene TWNK Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245 31455269;19353676 False 2 0;100;0 19.48 True ENSG00000107815 ENSG00000107815 HGNC:1160 TWNK gene TWNK Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245;Perrault syndrome 5 616138;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286 31455269;19353676 False 2 0;100;0 19.48 True ENSG00000107815 ENSG00000107815 HGNC:1160 TXN2 gene TXN2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 29, MIM# 616811 26626369;12529397 False 2 0;100;0 19.48 True ENSG00000100348 ENSG00000100348 HGNC:17772 UBA5 gene UBA5 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Autosomal recessive spinocerebellar ataxia 24, 617133;Early infantile epileptic encephalopathy 44, 617132 26872069;29902590 False 2 0;100;0 19.48 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBA5 gene UBA5 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy 32179706;26872069 False 2 0;100;0 19.48 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBQLN4 gene UBQLN4 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 28463112;30804504 False 2 0;100;0 19.48 False ENSG00000160803 ENSG00000160803 HGNC:1237 UBR4 gene UBR4 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Episodic ataxia;Episodic ataxia type 8, 616055 29062094;23982692;28600779 False 2 0;100;0 19.48 True ENSG00000127481 ENSG00000127481 HGNC:30313 UBTF gene UBTF Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 PMID: 30517966 False 2 0;100;0 19.48 True ENSG00000108312 ENSG00000108312 HGNC:12511 UNC80 gene UNC80 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 27513830 False 2 0;100;0 19.48 True ENSG00000144406 ENSG00000144406 HGNC:26582 UQCC3 gene UQCC3 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111 25008109;28804536 False 2 0;100;0 19.48 True ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRC1 gene UQCRC1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, MIM# 619279 33141179;33248804 False 2 0;100;0 19.48 True ENSG00000010256 ENSG00000010256 HGNC:12585 UQCRH gene UQCRH Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 11, MIM#620137 34750991 False 2 0;100;0 19.48 True ENSG00000173660 ENSG00000173660 HGNC:12590 UQCRQ gene UQCRQ Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 18439546 False 2 0;100;0 19.48 True ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Urocanase deficiency, MIM#276880 19304569;30619714 False 2 0;100;0 19.48 True ENSG00000159650 ENSG00000159650 HGNC:26444 USMG5 gene USMG5 Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 29917077;30240627 False 2 0;100;0 19.48 True ENSG00000173915 ENSG00000173915 HGNC:30889 USP8 gene USP8 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complicated hereditary spastic paraplegia 24482476 False 2 0;100;0 19.48 True ENSG00000138592 ENSG00000138592 HGNC:12631 VAMP1 gene VAMP1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic ataxia 1, autosomal dominant, MIM# 108600" 22958904 False 2 0;100;0 19.48 True ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP1 gene VAMP1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant spastic ataxia 1, 108600;Spastic ataxia 1, autosomal dominant, 108600 22958904 False 2 0;100;0 19.48 True ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP1 gene VAMP1 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic ataxia 1, autosomal dominant, 108600 22958904 False 2 0;100;0 19.48 True ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP1 gene VAMP1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic ataxia 1, autosomal dominant, MIM# 108600" 22958904 False 2 0;100;0 19.48 True ENSG00000139190 ENSG00000139190 HGNC:12642 VLDLR gene VLDLR Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050 16174313;18326629 False 2 0;100;0 19.48 True ENSG00000147852 ENSG00000147852 HGNC:12698 VPS37A gene VPS37A Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR 22717650 False 2 0;100;0 19.48 True ENSG00000155975 ENSG00000155975 HGNC:24928 VRK1 gene VRK1 Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, 607596 19646678;21937992;25609612;24126608;27281532 False 2 0;100;0 19.48 True ENSG00000100749 ENSG00000100749 HGNC:12718 VRK1 gene VRK1 Expert Review Amber;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia;Distal hereditary motor neuropathy;dHMN/dSMA 31560180;32242460;31178479;31837156;30847374;34169149;26583493 False 2 0;50;50 19.48 True ENSG00000100749 ENSG00000100749 HGNC:12718 WARS gene WARS Expert Review Amber;Literature;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type IX, MIM#617721 28369220;31321409;31069783 False 2 67;33;0 19.48 True ENSG00000140105 ENSG00000140105 HGNC:12729 WDR45 gene WDR45 Expert Review Amber;Expert list Progressive Neurological Conditions 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) Neurodegeneration with brain iron accumulation 5, MIM# 300894 26859818;25301227 False 2 0;100;0 19.48 False ENSG00000196998 ENSG00000196998 HGNC:28912 XPR1 gene XPR1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal ganglia calcification, idiopathic, 6 MIM#616413 PMID: 33433330 False 2 0;100;0 19.48 True ENSG00000143324 ENSG00000143324 HGNC:12827 YME1L1 gene YME1L1 Expert Review Amber;NHS GMS;Expert Review Amber;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 11 MIM#617302 30544562;27495975 False 2 0;100;0 19.48 True ENSG00000136758 ENSG00000136758 HGNC:12843 ZFYVE26 gene ZFYVE26 Expert Review Amber;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic paraplegia 15, 270700 24367272;18394578 False 2 50;50;0 19.48 True ENSG00000072121 ENSG00000072121 HGNC:20761 ZMIZ1 gene ZMIZ1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659 PMID: 30639322 False 2 0;50;50 19.48 True ENSG00000108175 ENSG00000108175 HGNC:16493 CANVAS_ACAGG str RFC1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome;fasciculations;elevated serum creatine kinase levels;denervation 33103729 False 2 0;100;0 19.48 True ENSG00000035928 ENSG00000035928 HGNC:9969 4 39350045 39350103 39348425 39348483 ACAGG 0 400 CANVAS_ACAGG str RFC1 Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome;fasciculations;elevated serum creatine kinase levels;denervation 33103729 False 2 0;100;0 19.48 True ENSG00000035928 ENSG00000035928 HGNC:9969 4 39350045 39350103 39348425 39348483 ACAGG 0 400