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 ABCC6 gene ABCC6 Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown Moyamoya disease False 1 0;0;100 19.48 True ENSG00000091262 ENSG00000091262 HGNC:57 ABCD3 gene ABCD3 Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 5 (MIM#616278) 25168382 False 1 0;0;100 19.48 True ENSG00000117528 ENSG00000117528 HGNC:67 ACADL gene ACADL Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pulmonary surfactant dysfunction 24591516;31399326 False 1 0;0;100 19.48 True ENSG00000115361 ENSG00000115361 HGNC:88 ACE gene ACE Genomics England PanelApp;Expert Review Red Progressive Neurological Conditions Neurology and neurodevelopmental disorders {Stroke, hemorrhagic} False 1 0;0;100 19.48 False ENSG00000159640 ENSG00000159640 HGNC:2707 ACOX1 gene ACOX1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudoneonatal adrenoleukodystrophy 18536048 False 1 0;0;100 19.48 True ENSG00000161533 ENSG00000161533 HGNC:119 ACSL5 gene ACSL5 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Diarrhoea 13, MIM# 620357" PMID: 33191500 False 1 0;0;100 19.48 True ENSG00000197142 ENSG00000197142 HGNC:16526 ADCY5 gene ADCY5 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskinesia with orofacial involvement MIM#606703 (PMID: 36003298;33564903;27061943) False 1 0;50;50 19.48 True ENSG00000173175 ENSG00000173175 HGNC:236 ADGRG1 gene ADGRG1 Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders bilateral frontoparietal polymicrogyria MONDO:0011738 False 1 0;0;100 19.48 True ENSG00000205336 ENSG00000205336 HGNC:4512 ADRA2B gene ADRA2B Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown Cortical myoclonus and epilepsy 31664034;24114805;21937992 False 1 0;0;100 19.48 True ENSG00000222040 ENSG00000274286 HGNC:282 AFDN gene AFDN Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown Epilepsy, MONDO:0015653 (PMID: 31690835;9679199) False 1 0;0;100 19.48 True ENSG00000130396 ENSG00000130396 HGNC:7137 AFG3L2 gene AFG3L2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive, MIM# 614487;Spinocerebellar ataxia 28, MIM# 610246 32237276 False 1 50;0;50 19.48 True ENSG00000141385 ENSG00000141385 HGNC:315 AFG3L2 gene AFG3L2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive MIM#614487;Spinocerebellar ataxia 28 MIM#610246 25401298;22022284;25927548 False 1 0;100;0 19.48 True ENSG00000141385 ENSG00000141385 HGNC:315 AGO3 gene AGO3 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability 25271087 False 1 0;0;100 19.48 True ENSG00000126070 ENSG00000126070 HGNC:18421 AIFM1 gene AIFM1 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 50;0;50 19.48 False ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP2 gene AIMP2 Literature;Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 17 618006 29215095 False 1 0;0;100 19.48 False ENSG00000106305 ENSG00000106305 HGNC:20609 ALDOB gene ALDOB Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM# 229600 False 1 0;0;100 19.48 True ENSG00000136872 ENSG00000136872 HGNC:417 ALG10 gene ALG10 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, ALG10-related 33798445 False 1 0;0;100 19.48 True ENSG00000139133 ENSG00000139133 HGNC:23162 ALG10 gene ALG10 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, ALG10-related 33798445 False 1 0;0;100 19.48 True ENSG00000139133 ENSG00000139133 HGNC:23162 ALG12 gene ALG12 Expert Review Red;Literature;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig;OMIM: 607144 (PMID: 33618527) False 1 0;0;100 19.48 True ENSG00000182858 ENSG00000182858 HGNC:19358 ALG2 gene ALG2 Expert Review Red;NHS GMS;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228;Congenital disorder of glycosylation, type Ii, MIM# 607906 (PMID:12684507;28733338;28007376) False 1 0;0;100 19.48 True ENSG00000119523 ENSG00000119523 HGNC:23159 ALG2 gene ALG2 Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ii (MIM# 607906) 12684507;23404334;24461433 False 1 0;0;100 19.48 True ENSG00000119523 ENSG00000119523 HGNC:23159 ALPL gene ALPL Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypophosphatasia False 1 0;0;100 19.48 True ENSG00000162551 ENSG00000162551 HGNC:438 ALPL gene ALPL Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypophosphatasia, adult, MIM# 146300;Osteomalacia;Parkinsonism PMID: 32956941 False 1 50;0;50 19.48 True ENSG00000162551 ENSG00000162551 HGNC:438 ALS2 gene ALS2 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000003393 ENSG00000003393 HGNC:443 ALX4 gene ALX4 Expert Review Green;Expert Review Red;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Parietal foramina 2, MIM# 609597" 33269135 False 1 50;0;50 19.48 True ENSG00000052850 ENSG00000052850 HGNC:450 AMACR gene AMACR Expert Review Green;Expert Review Red;Literature;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis 20921516 False 1 50;0;50 19.48 True ENSG00000242110 ENSG00000242110 HGNC:451 AMPD1 gene AMPD1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy due to myoadenylate deaminase deficiency 615511;Rhabdomyolysis False 1 0;0;100 19.48 True ENSG00000116748 ENSG00000116748 HGNC:468 AMPD2 gene AMPD2 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI 27066553 False 1 0;0;100 19.48 True ENSG00000116337 ENSG00000116337 HGNC:469 AMPD2 gene AMPD2 Expert Review Red;Other;Expert Review Red;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, 615809 False 1 0;0;100 19.48 True ENSG00000116337 ENSG00000116337 HGNC:469 AMPD2 gene AMPD2 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 63 MIM#615686 24482476;30089829;29463858 False 1 0;0;100 19.48 True ENSG00000116337 ENSG00000116337 HGNC:469 ANG gene ANG Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000214274 ENSG00000214274 HGNC:483 ANG gene ANG Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown Parkinson disease MONDO:0005180 33875291;25386690 False 1 0;0;100 19.48 True ENSG00000214274 ENSG00000214274 HGNC:483 ANTXR1 gene ANTXR1 Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GAPO syndrome MONDO:0009263 24664815 False 1 0;0;100 19.48 True ENSG00000169604 ENSG00000169604 HGNC:21014 APOPT1 gene APOPT1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, MIM#220110 False 1 0;0;100 19.48 True ENSG00000256053 ENSG00000256053 HGNC:20492 ARHGEF9 gene ARHGEF9 Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 8, MIM# 300607 31942680;30048823;29130122;28620718 False 1 0;0;100 19.48 True ENSG00000131089 ENSG00000131089 HGNC:14561 ARL6 gene ARL6 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, 600151 False 1 50;0;50 19.48 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert list;Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, MIM#617622 False 1 50;0;50 19.48 True ENSG00000135931 ENSG00000135931 HGNC:20730 ARPP21 gene ARPP21 ClinGen Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 30811981;31653410;35525134 False 1 0;0;100 19.48 False ENSG00000172995 ENSG00000172995 HGNC:16968 ARSI gene ARSI Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood onset spastic paraplegia 24482476 False 1 0;0;100 19.48 True ENSG00000183876 ENSG00000183876 HGNC:32521 ARX gene ARX Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders Cerebral Malformation Disorders False 1 0;0;100 19.48 True ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 False 1 50;0;50 19.48 True ENSG00000104763 ENSG00000104763 HGNC:735 ATN1 gene ATN1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Dentatorubral-pallidoluysian atrophy, MIM# 125370" 2742549 False 1 0;0;100 19.48 True ENSG00000111676 ENSG00000111676 HGNC:3033 ATP1A1 gene ATP1A1 Expert Review Red;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary spastic paraplegia 31705535 False 1 0;0;100 19.48 True ENSG00000163399 ENSG00000163399 HGNC:799 ATP1A2 gene ATP1A2 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 1, 104290;Familial hemiplegic migraine 2, 602481 False 1 0;0;100 19.48 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP5F1 gene ATP5F1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085 36239646 False 1 0;0;100 19.48 True ENSG00000116459 ENSG00000116459 HGNC:840 ATP5G3 gene ATP5G3 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, early-onset, and/or spastic paraplegia MIM#619681 PMIDS: 34636445, 34954817 False 1 0;0;100 19.48 True ENSG00000154518 ENSG00000154518 HGNC:843 ATP7A gene ATP7A Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, distal, X-linked 3, 300489 False 1 67;0;33 19.48 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000123191 ENSG00000123191 HGNC:870 ATP7B gene ATP7B Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease 277900;Wilson disease, 277900 False 1 0;0;100 19.48 True ENSG00000123191 ENSG00000123191 HGNC:870 ATPAF2 gene ATPAF2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 False ENSG00000171953 ENSG00000171953 HGNC:18802 ATPAF2 gene ATPAF2 Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 14757859 False 1 0;0;100 19.48 False ENSG00000171953 ENSG00000171953 HGNC:18802 ATR gene ATR Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1 210600 12640452 False 1 0;0;100 19.48 False ENSG00000175054 ENSG00000175054 HGNC:882 AUTS2 gene AUTS2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder, autosomal dominant 26 MIM#615834" PMID: 34573342, PMID: 33346930, PMID: 27075013, PMID: 23332918, PMID: 12160723 False 1 0;0;100 19.48 True ENSG00000158321 ENSG00000158321 HGNC:14262 BANF1 gene BANF1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related 36980188 False 1 0;0;100 19.48 True ENSG00000175334 ENSG00000175334 HGNC:17397 BBS10 gene BBS10 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, 615987 False 1 50;0;50 19.48 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, 615989 False 1 100;0;0 19.48 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, 615981 15637713 False 1 50;0;50 19.48 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, 615982 False 1 50;0;50 19.48 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, 615983 15637713 False 1 50;0;50 19.48 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, 615984 False 1 50;0;50 19.48 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, 615986 False 1 50;0;50 19.48 True ENSG00000122507 ENSG00000122507 HGNC:30000 BCL11A gene BCL11A Expert Review Red;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Dias-Logan syndrome, MIM# 617101" 27453576;32903878 False 1 0;0;100 19.48 True ENSG00000119866 ENSG00000119866 HGNC:13221 BET1 gene BET1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with rapid progression, MIM# 254100 34779586 False 1 0;50;50 19.48 True ENSG00000105829 ENSG00000105829 HGNC:14562 BICD2 gene BICD2 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 False 1 67;0;33 19.48 True ENSG00000185963 ENSG00000185963 HGNC:17208 BRCC3 gene BRCC3 Expert Review Red;Genomics England PanelApp 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) Moyamoya disease 21596366;33868155 False 1 0;0;100 19.48 True ENSG00000185515 ENSG00000185515 HGNC:24185 BTD gene BTD Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency, MIM# 253260 32734340;3399084 False 1 0;0;100 19.48 True ENSG00000169814 ENSG00000169814 HGNC:1122 C19orf12 gene C19orf12 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 4 MIM#614298" False 1 0;0;100 19.48 True ENSG00000131943 ENSG00000131943 HGNC:25443 C1QB gene C1QB Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal C1q deficiency, MIM# 613652 23651859 False 1 0;0;100 19.48 False ENSG00000173369 ENSG00000173369 HGNC:1242 CACNA1B gene CACNA1B Expert Review Red;Other Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonus-dystonia syndrome MONDO:0000903 25296916;26157024;35698023;33051750;35041927 False 1 0;0;100 19.48 True ENSG00000148408 ENSG00000148408 HGNC:1389 CACNA1S gene CACNA1S Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalemic periodic paralysis, type 1, MIM# 170400 11591859 False 1 0;0;100 19.48 True ENSG00000081248 ENSG00000081248 HGNC:1397 CACNB4 gene CACNB4 Expert Review Red;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia type 5, 613855 10762541;27003325;9628818 False 1 0;50;50 19.48 True ENSG00000182389 ENSG00000182389 HGNC:1404 CAMLG gene CAMLG Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type IIz, OMIM #: 620201 35262690 False 1 0;0;100 19.48 True ENSG00000164615 ENSG00000164615 HGNC:1471 CAMLG gene CAMLG Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type IIz, OMIM #: 620201 PMID: 35262690 False 1 0;0;100 19.48 True ENSG00000164615 ENSG00000164615 HGNC:1471 CAMTA1 gene CAMTA1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756 PMID: 31957018 False 1 0;0;100 19.48 True ENSG00000171735 ENSG00000171735 HGNC:18806 CCDC186 gene CCDC186 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy 33259146 False 1 0;0;100 19.48 True ENSG00000165813 ENSG00000165813 HGNC:24349 CCDC22 gene CCDC22 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ritscher-Schinzel syndrome 2 MIM#300963 PMID: 34020006 False 1 0;0;100 19.48 True ENSG00000101997 ENSG00000101997 HGNC:28909 CCDC28B gene CCDC28B Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Other {Bardet-Biedl syndrome 1, modifier of}, 209900 False 1 0;33;67 19.48 True ENSG00000160050 ENSG00000160050 HGNC:28163 CCM2 gene CCM2 Expert Review Green;Expert Review Red;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral cavernous malformations-2, MIM#603284 32702807 False 1 50;0;50 19.48 True ENSG00000136280 ENSG00000136280 HGNC:21708 CCND2 gene CCND2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938 PMID: 24705253 False 1 0;0;100 19.48 True ENSG00000118971 ENSG00000118971 HGNC:1583 CCT5 gene CCT5 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia;Sensory Neuropathy with Spastic Paraplegia 16399879 False 1 0;0;100 19.48 True ENSG00000150753 ENSG00000150753 HGNC:1618 CENPF gene CENPF Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Stromme syndrome MIM#243605" 35488810 False 1 0;0;100 19.48 True ENSG00000117724 ENSG00000117724 HGNC:1857 CENPJ gene CENPJ Genomics England PanelApp;Expert Review Red Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 4 613676 False 1 0;0;100 19.48 False ENSG00000151849 ENSG00000151849 HGNC:17272 CEP152 gene CEP152 Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 5 613823 21131973 False 1 0;0;100 19.48 True ENSG00000103995 ENSG00000103995 HGNC:29298 CEP63 gene CEP63 Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 6 614728 21983783 False 1 0;0;100 19.48 True ENSG00000182923 ENSG00000182923 HGNC:25815 CHCHD10 gene CHCHD10 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 24934289 False 1 0;0;100 19.48 True ENSG00000250479 ENSG00000250479 HGNC:15559 CHMP1A gene CHMP1A Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, 614961 False 1 50;0;50 19.48 True ENSG00000131165 ENSG00000131165 HGNC:8740 CHMP2B gene CHMP2B Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown familial frontotemporal lobar degeneration (ALS17);Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;Dystonia 20301378 False 1 0;0;100 19.48 True ENSG00000083937 ENSG00000083937 HGNC:24537 CHRM1 gene CHRM1 Expert Review Red;Expert Review;Expert Review Amber;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;intellectual disability;autism;epilepsy 34212451;31981491;12483218 False 1 0;50;50 19.48 True ENSG00000168539 ENSG00000168539 HGNC:1950 CHRNA7 gene CHRNA7 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;seizures;hypotonia 20979196;21596161;21290787 False 1 0;0;100 19.48 True ENSG00000175344 ENSG00000175344 HGNC:1960 CHST8 gene CHST8 Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peeling Skin Syndrome 22289416;28204496 False 1 0;0;100 19.48 True ENSG00000124302 ENSG00000124302 HGNC:15993 CLASP1 gene CLASP1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, CLASP1-related 39040917 False 1 0;0;100 19.48 True ENSG00000074054 ENSG00000074054 HGNC:17088 CLCN2 gene CLCN2 Expert Review Red;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628;{Epilepsy, juvenile absence, susceptibility to, 2}, 607628;{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 23707145;19191339;20037607;19710712;36374051 False 1 0;0;100 19.48 True ENSG00000114859 ENSG00000114859 HGNC:2020 CLPP gene CLPP Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3 MIM#614129 22037954 False 1 0;0;100 19.48 True ENSG00000125656 ENSG00000125656 HGNC:2084 COA3 gene COA3 Expert Review Red;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 14, MIM#619058 25604084 False 1 0;0;100 19.48 True ENSG00000183978 ENSG00000183978 HGNC:24990 COA5 gene COA5 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 21457908 False 1 0;0;100 19.48 True ENSG00000183513 ENSG00000183513 HGNC:33848 COASY gene COASY Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 6, MIM# 615643" 27487380;24360804 False 1 0;0;100 19.48 True ENSG00000068120 ENSG00000068120 HGNC:29932 COG2 gene COG2 Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIq (MIM# 617395) 24784932 False 1 0;0;100 19.48 True ENSG00000135775 ENSG00000135775 HGNC:6546 COL4A1 gene COL4A1 Expert Review Green;Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Recurrent rhabdomyolysis;infections;hypertrophic cardiomyopathy. 31540749 False 1 50;25;25 19.48 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stroke, hemorrhagic MIM#614519 22209247 False 1 0;0;100 19.48 True ENSG00000134871 ENSG00000134871 HGNC:2203 COL4A2 gene COL4A2 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain small vessel disease 2, 614483 30413629;27624120;24390199 False 1 0;0;100 19.48 True ENSG00000134871 ENSG00000134871 HGNC:2203 COL4A2 gene COL4A2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease 2, MIM# 614483 33577044;33247988 False 1 0;0;100 19.48 True ENSG00000134871 ENSG00000134871 HGNC:2203 COQ5 gene COQ5 Expert Review Red;Expert list;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 9, MIM#619028;Cerebellar ataxia;encephalopathy;generalized tonic-clonic seizures;intellectual disability 29044765 False 1 0;0;100 19.48 True ENSG00000110871 ENSG00000110871 HGNC:28722 COQ5 gene COQ5 Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 9, MIM#619028;Cerebellar ataxia;encephalopathy;generalized tonic-clonic seizures;intellectual disability 29044765 False 1 0;0;100 19.48 True ENSG00000110871 ENSG00000110871 HGNC:28722 COQ7 gene COQ7 Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia, COQ7-related (MONDO#0019064) PMID: 33215859 False 1 0;0;100 19.48 False ENSG00000167186 ENSG00000167186 HGNC:2244 COQ8A gene COQ8A Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4 612016 False 1 0;0;100 19.48 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ9 gene COQ9 Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5 614654 False 1 0;0;100 19.48 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX18 gene COX18 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), COX18-related PMID:37468577 False 1 0;0;100 19.48 True ENSG00000163626 ENSG00000163626 HGNC:26801 COX4I2 gene COX4I2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 19268275;22730437 False 1 0;0;100 19.48 True ENSG00000131055 ENSG00000131055 HGNC:16232 COX8A gene COX8A Expert Review Red;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 15, MIM#619059 26685157 False 1 0;0;100 19.48 True ENSG00000176340 ENSG00000176340 HGNC:2294 CPA6 gene CPA6 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 5, MIM#614417;Febrile seizures, familial, 11, MIM#614418 25875328;21922598;23105115 False 1 0;50;50 19.48 True ENSG00000165078 ENSG00000165078 HGNC:17245 CRB1 gene CRB1 Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pigmented paravenous chorioretinal atrophy MIM#172870 False 1 0;0;100 19.48 True ENSG00000134376 ENSG00000134376 HGNC:2343 CSNK1E gene CSNK1E Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related 30488659 False 1 0;0;100 19.48 True ENSG00000213923 ENSG00000213923 HGNC:2453 CTSA gene CTSA Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal galactosialidosis MONDO:0009737 False 1 0;0;100 19.48 True ENSG00000064601 ENSG00000064601 HGNC:9251 CYBRD1 gene CYBRD1 Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Iron metabolism disease, MONDO:0002279, CYBRD1-related 15338274;27884173 False 1 0;0;100 19.48 True ENSG00000071967 ENSG00000071967 HGNC:20797 CYP2U1 gene CYP2U1 Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, 615030 False 1 0;0;100 19.48 True ENSG00000155016 ENSG00000155016 HGNC:20582 DAB1 gene DAB1 Expert Review Red;Expert list;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal epilepsy;developmental delay;cerebellar ataxia;structural brain abnormalities;oral motor difficulty PMID: 33928188 False 1 33;0;67 19.48 True ENSG00000173406 ENSG00000173406 HGNC:2661 DAB1 gene DAB1 Expert Review Red;Literature;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal epilepsy;developmental delay;cerebellar ataxia;structural brain abnormalities;oral motor difficulty PMID: 33928188 False 1 33;33;33 19.48 True ENSG00000173406 ENSG00000173406 HGNC:2661 DAG1 gene DAG1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818;Walker-Warburg syndrome and tectocerebellar dysgraphia PMID: 24052401;25934851;30450679 False 1 0;0;100 19.48 True ENSG00000173402 ENSG00000173402 HGNC:2666 DAO gene DAO Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic Lateral Sclerosis 29274788;29895397;20368421;29194436 False 1 0;0;100 19.48 True ENSG00000110887 ENSG00000110887 HGNC:2671 DCAF17 gene DCAF17 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000115827 ENSG00000115827 HGNC:25784 DCTN1 gene DCTN1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Perry syndrome MIM#168605 24343258 False 1 0;0;100 19.48 True ENSG00000204843 ENSG00000204843 HGNC:2711 DCX gene DCX Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders lissencephaly spectrum disorders MONDO:0018838 False 1 0;0;100 19.48 True ENSG00000077279 ENSG00000077279 HGNC:2714 DDHD1 gene DDHD1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;sensory neuropathy 28818478 False 1 100;0;0 19.48 True ENSG00000100523 ENSG00000100523 HGNC:19714 DENND5A gene DENND5A Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 49, MIM# 617281 32734340;27866705 False 1 0;0;100 19.48 True ENSG00000184014 ENSG00000184014 HGNC:19344 DNAH14 gene DNAH14 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), DNAH14-related PMID: 35438214 False 1 50;0;50 19.48 True ENSG00000185842 ENSG00000185842 HGNC:2945 DNAJC13 gene DNAJC13 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 30788857;24218364;29309590;31082451;29887357;27270108 False 1 0;100;0 19.48 True ENSG00000138246 ENSG00000138246 HGNC:30343 DNM2 gene DNM2 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complicated hereditary spastic paraplegia 26517984 False 1 0;0;100 19.48 True ENSG00000079805 ENSG00000079805 HGNC:2974 DRD2 gene DRD2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Combined dystonia, MONDO:0020065, DRD2-related;dystonia;chorea;anxiety;ataxia;orofacial dyskinesia;tremor;memory problems 33200438 False 1 100;0;0 19.48 True Other ENSG00000149295 ENSG00000149295 HGNC:3023 DSE gene DSE Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539) 23704329 False 1 0;0;100 19.48 True ENSG00000111817 ENSG00000111817 HGNC:21144 DYNC1H1 gene DYNC1H1 Expert Review Red;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600 False 1 50;0;50 19.48 True ENSG00000197102 ENSG00000197102 HGNC:2961 EARS2 gene EARS2 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924;Leukoencephalopathy with thalamus and brainstem involvement and high lactate 22492562;23008233;25854774;26619324;26893310 False 1 0;0;100 19.48 True ENSG00000103356 ENSG00000103356 HGNC:29419 EARS2 gene EARS2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12 MIM#614924 22492562 False 1 0;0;100 19.48 True ENSG00000103356 ENSG00000103356 HGNC:29419 EED gene EED Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cohen-Gibson syndrome, MIM# 617561 PMID: 34533271 False 1 0;0;100 19.48 True ENSG00000074266 ENSG00000074266 HGNC:3188 EEF2 gene EEF2 Expert Review Red;Royal Melbourne Hospital;GeneReviews;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 26 15732118;23001565 False 1 100;0;0 19.48 True ENSG00000167658 ENSG00000167658 HGNC:3214 EFHC1 gene EFHC1 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, juvenile absence, susceptibility to, 1}, 607631;{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 31056551;28370826;29750216;33969125;33181902 False 1 0;50;50 19.48 True ENSG00000096093 ENSG00000096093 HGNC:16406 ELOVL1 gene ELOVL1 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 False 1 0;33;67 19.48 True ENSG00000066322 ENSG00000066322 HGNC:14418 ELP1 gene ELP1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092, ELP1-related PMID: 36864284 False 1 0;0;100 19.48 True ENSG00000070061 ENSG00000070061 HGNC:5959 ERCC3 gene ERCC3 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group B, MIM# 610651 16947863;20301571 False 1 0;0;100 19.48 True ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC3 gene ERCC3 Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 2, photosensitive 616390 False 1 0;0;100 19.48 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC5 gene ERCC5 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group G;Cockayne syndrome, MIM# 278780 20301571;26884178 False 1 0;0;100 19.48 True ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6L2 gene ERCC6L2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, MIM#615715 29987015;24507776 False 1 0;100;0 19.48 True ENSG00000182150 ENSG00000182150 HGNC:26922 ERLIN1 gene ERLIN1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 29453415 False 1 0;0;100 19.48 True ENSG00000107566 ENSG00000107566 HGNC:16947 EWSR1 gene EWSR1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 29731676;22454397 False 1 0;100;0 19.48 True ENSG00000182944 ENSG00000182944 HGNC:3508 EXOSC3 gene EXOSC3 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, 614678 False 1 100;0;0 19.48 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC8 gene EXOSC8 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, MIM#616081 24989451;29656927;34210538 False 1 0;0;100 19.48 True ENSG00000120699 ENSG00000120699 HGNC:17035 EXOSC8 gene EXOSC8 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, MIM# 616081 24989451 False 1 0;0;100 19.48 True ENSG00000120699 ENSG00000120699 HGNC:17035 FA2H gene FA2H Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, MIM# 612319 False 1 0;0;100 19.48 True ENSG00000103089 ENSG00000103089 HGNC:21197 FAAHP1 gene FAAHP1 Expert Review Red;Literature;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown Pain insensitivity 30929760 False 1 0;0;100 19.48 True ENSG00000232022 ENSG00000232022 HGNC:50679 FIG4 gene FIG4 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000112367 ENSG00000112367 HGNC:16873 FIG4 gene FIG4 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral temporooccipital, MIM#612691 24598713 False 1 0;0;100 19.48 True ENSG00000112367 ENSG00000112367 HGNC:16873 FKTN gene FKTN Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Fukuyama congenital muscular dystrophy False 1 0;0;100 19.48 True ENSG00000106692 ENSG00000106692 HGNC:3622 FOLR1 gene FOLR1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068" 24556562;27378809 False 1 0;0;100 19.48 True ENSG00000110195 ENSG00000110195 HGNC:3791 FOXG1 gene FOXG1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rett syndrome False 1 0;0;100 19.48 True ENSG00000176165 ENSG00000176165 HGNC:3811 FTH1 gene FTH1 Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Hemochromatosis, type 5, MIM# 615517" 11389486 False 1 0;0;100 19.48 True ENSG00000167996 ENSG00000167996 HGNC:3976 FUS gene FUS Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "tremor, hereditary essential, 4 MONDO:0013888" 22863194;23834483;23825177;38626532 False 1 0;0;100 19.48 True ENSG00000089280 ENSG00000089280 HGNC:4010 GABBR1 gene GABBR1 Expert Review Red;Literature;Expert Review Green;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502 PMID:36103875 False 1 50;0;50 19.48 True ENSG00000204681 ENSG00000204681 HGNC:4070 GABRA6 gene GABRA6 Expert Review Red;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted BFIE;CAE PMID: 21930603;29215089;19429026 False 1 0;0;100 19.48 True ENSG00000145863 ENSG00000145863 HGNC:4080 GABRG1 gene GABRG1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy MONDO:0100062 PMID: 36121006 False 1 0;0;100 19.48 True ENSG00000163285 ENSG00000163285 HGNC:4086 GAD1 gene GAD1 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebralpalsy, spasticquadriplegic,1, 603513 15571623 False 1 0;0;100 19.48 True ENSG00000128683 ENSG00000128683 HGNC:4092 GAN gene GAN Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy-1, MIM#256850 False 1 0;0;100 19.48 True ENSG00000261609 ENSG00000261609 HGNC:4137 GATB gene GATB Expert Review Red;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy 30283131 False 1 0;0;100 19.48 True ENSG00000059691 ENSG00000059691 HGNC:8849 GATC gene GATC Expert Review Red;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy 30283131 False 1 0;0;100 19.48 True ENSG00000257218 ENSG00000257218 HGNC:25068 GCH1 gene GCH1 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000131979 ENSG00000131979 HGNC:4193 GCSH gene GCSH Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899;Disorders of serine, glycine or glycerate metabolism 1671321;27604308 False 1 0;0;100 19.48 True ENSG00000140905 ENSG00000140905 HGNC:4208 GDF2 gene GDF2 Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506 23972370 False 1 0;0;100 19.48 True ENSG00000128802 ENSG00000263761 HGNC:4217 GET4 gene GET4 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation,, type IIy MIM#620200 32395830 False 1 0;0;100 19.48 True ENSG00000239857 ENSG00000239857 HGNC:21690 GIGYF2 gene GIGYF2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 11} , OMIM # 607688 18358451;33239198;25279164;20060621;19250854;26152800;19449032 False 1 0;50;50 19.48 True ENSG00000204120 ENSG00000204120 HGNC:11960 GJB3 gene GJB3 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders HMSN;erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy False 1 0;0;100 19.48 True ENSG00000188910 ENSG00000188910 HGNC:4285 GMPR gene GMPR Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted progressive external ophthalmoplegia 31600844 False 1 0;100;0 19.48 True ENSG00000137198 ENSG00000137198 HGNC:4376 GNA11 gene GNA11 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalcemia, autosomal dominant 2, MIM# 615361 27334330 False 1 0;0;100 19.48 True ENSG00000088256 ENSG00000088256 HGNC:4379 GNE gene GNE Expert Review Green;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 29086072 False 1 50;0;50 19.48 False ENSG00000159921 ENSG00000159921 HGNC:23657 GPHN gene GPHN Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, MIM# 615501 False 1 0;0;100 19.48 True ENSG00000171723 ENSG00000171723 HGNC:15465 GRIA1 gene GRIA1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal dominant 67, MIM# 619927;Intellectual developmental disorder, autosomal recessive 76, MIM# 619931 35675825 False 1 0;0;100 19.48 True ENSG00000155511 ENSG00000155511 HGNC:4571 GRID2 gene GRID2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complicated spastic paraplegia 24122788 False 1 0;0;100 19.48 True ENSG00000152208 ENSG00000152208 HGNC:4576 GSN gene GSN Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type MIM#105120 False 1 0;0;100 19.48 True ENSG00000148180 ENSG00000148180 HGNC:4620 GTF2H5 gene GTF2H5 Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive 616395 False 1 0;0;100 19.48 False ENSG00000272047 ENSG00000272047 HGNC:21157 GUF1 gene GUF1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 40, MIM# 617065" 26486472 False 1 0;0;100 19.48 True ENSG00000151806 ENSG00000151806 HGNC:25799 HARS2 gene HARS2 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM#614926 False 1 0;0;100 19.48 True ENSG00000112855 ENSG00000112855 HGNC:4817 HARS2 gene HARS2 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 2, MIM# 614926" 31827252 False 1 0;0;100 19.48 True ENSG00000112855 ENSG00000112855 HGNC:4817 HCN4 gene HCN4 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Epilepsy, idiopathic generalized, susceptibility to, 18}, MIM# 619521" 30127718;29588962 False 1 0;0;100 19.48 True ENSG00000138622 ENSG00000138622 HGNC:16882 HEPH gene HEPH Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Iron metabolism defect 30182051;30060949 False 1 0;0;100 19.48 True ENSG00000089472 ENSG00000089472 HGNC:4866 HEXA gene HEXA Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM2 Gangliosidosis;Tay-Sachs disease;Parkinsonism;OMIM 272800 PMID: 33069254 False 1 50;0;50 19.48 True ENSG00000213614 ENSG00000213614 HGNC:4878 HIBADH gene HIBADH Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal organic aciduria 34176136 False 1 0;0;100 19.48 True ENSG00000106049 ENSG00000106049 HGNC:4907 HSPB3 gene HSPB3 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HMSN, dHMN/dSMA;?Neuronopathy, distal hereditary motor, type IIC, 613376 20142617;27549087 False 1 0;0;100 19.48 True ENSG00000169271 ENSG00000169271 HGNC:5248 HTRA2 gene HTRA2 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000115317 ENSG00000115317 HGNC:14348 IARS2 gene IARS2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MIM#616007" PMID: 30041933 False 1 0;0;100 19.48 True ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3 MIM#615330 PMID: 30258207 False 1 0;0;100 19.48 True ENSG00000181873 ENSG00000181873 HGNC:27302 IDH1 gene IDH1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders Other Ollier disease MONDO:0008145;Maffucci syndromeMONDO:0013808 False 1 0;0;100 19.48 True ENSG00000138413 ENSG00000138413 HGNC:5382 IFRD1 gene IFRD1 Expert Review Red;Expert Review;Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 18 MIM#607458 29362493;28601596;19409521 False 1 0;0;100 19.48 True ENSG00000006652 ENSG00000006652 HGNC:5456 IFRD1 gene IFRD1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia 29362493 False 1 0;0;100 19.48 True ENSG00000006652 ENSG00000006652 HGNC:5456 IFRD1 gene IFRD1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458);HMSN 29362493;19409521 False 1 0;0;100 19.48 True ENSG00000006652 ENSG00000006652 HGNC:5456 IGHMBP2 gene IGHMBP2 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VI 604320 False 1 50;0;50 19.48 True ENSG00000132740 ENSG00000132740 HGNC:5542 INTS8 gene INTS8 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MIM#618572 False 1 0;0;100 19.48 True ENSG00000164941 ENSG00000164941 HGNC:26048 IQGAP3 gene IQGAP3 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary neuropathy 32341455 False 1 0;0;100 19.48 True ENSG00000183856 ENSG00000183856 HGNC:20669 ITGB4 gene ITGB4 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epidermolysis bullosa, junctional 5A, intermediate MIM#619816;Epidermolysis bullosa, junctional 5B, with pyloric atresia MIM#226730" False 1 0;0;100 19.48 True ENSG00000132470 ENSG00000132470 HGNC:6158 JARID2 gene JARID2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay with variable intellectual disability and dysmorphic facies MIM#620098 PMID: 22480366 False 1 0;0;100 19.48 True ENSG00000008083 ENSG00000008083 HGNC:6196 KCNAB3 gene KCNAB3 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related 37396552;32990398;36345448 False 1 0;0;100 19.48 True ENSG00000170049 ENSG00000170049 HGNC:6230 KCNIP4 gene KCNIP4 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown seizures;epilepsy 33826137 False 1 0;0;100 19.48 True ENSG00000185774 ENSG00000185774 HGNC:30083 KCNJ11 gene KCNJ11 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820 False 1 50;0;50 19.48 True ENSG00000187486 ENSG00000187486 HGNC:6257 KCNN3 gene KCNN3 Expert Review Red;Expert list;Expert Review Green;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Zimmermann-Laband syndrome 3 MIM#618658 PMID: 33594261;31155282;34907639 False 1 33;0;67 19.48 True ENSG00000143603 ENSG00000143603 HGNC:6292 KCTD13 gene KCTD13 Expert Review Red;Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), KCTD13-related PMID: 33409479 False 1 0;0;100 19.48 True ENSG00000174943 ENSG00000174943 HGNC:22234 KDM5A gene KDM5A Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, KDM5A-related PMID: 34210021 False 1 0;0;100 19.48 True ENSG00000073614 ENSG00000073614 HGNC:9886 KDM6A gene KDM6A Expert Review Red;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) "Kabuki syndrome 2 MIM#300867" PMID: 28442529 False 1 0;0;100 19.48 True ENSG00000147050 ENSG00000147050 HGNC:12637 KIF1B gene KIF1B Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot Marie Tooth disease, type 2A1, 118210;HMSN 11389829;30126838;25802885 False 1 0;33;67 19.48 True ENSG00000054523 ENSG00000054523 HGNC:16636 KIF1BP gene KIF1BP Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome, MIM# 609460 28277559 False 1 0;50;50 19.48 True ENSG00000198954 ENSG00000198954 HGNC:23419 KIF5A gene KIF5A Expert Review Green;Expert Review Red;NHS GMS;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonus, intractable, neonatal MIM#617235 27463701;27414745 False 1 50;50;0 19.48 True Other ENSG00000155980 ENSG00000155980 HGNC:6323 KLC4 gene KLC4 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spastic paraplegia;progressive complicated spastic paraplegia 26423925 False 1 0;0;100 19.48 True ENSG00000137171 ENSG00000137171 HGNC:21624 KLHL13 gene KLHL13 Expert Review Red;Expert Review;Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females HMSN 24627108 False 1 0;0;100 19.48 True ENSG00000003096 ENSG00000003096 HGNC:22931 KMT2B gene KMT2B Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Dystonia 28, childhood-onset MIM#617284;Intellectual developmental disorder, autosomal dominant 68 MIM#619934" PMID: 34477219;37309110 False 1 0;0;100 19.48 True ENSG00000272333 ENSG00000272333 HGNC:15840 KPNA7 gene KPNA7 Expert Review Red;Literature;Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), KPNA7-related 24045845;32179771 False 1 0;0;100 19.48 True ENSG00000185467 ENSG00000185467 HGNC:21839 LARS2 gene LARS2 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4 MIM#615300 False 1 0;0;100 19.48 True ENSG00000011376 ENSG00000011376 HGNC:17095 LAS1L gene LAS1L Expert Review Green;Expert Review Red;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females congenital lethal motor neuron disease 24647030 False 1 50;0;50 19.48 True ENSG00000001497 ENSG00000001497 HGNC:25726 LAS1L gene LAS1L Expert Review Green;Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females congenital lethal motor neuron disease 24647030 False 1 50;0;50 19.48 True ENSG00000001497 ENSG00000001497 HGNC:25726 LMX1B gene LMX1B Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Focal segmental glomerulosclerosis 10 MIM#256020;Nail-patella syndrome MIM#161200" False 1 0;0;100 19.48 True ENSG00000136944 ENSG00000136944 HGNC:6654 LSM11 gene LSM11 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 8, MIM# 619486 PMID: 33230297 False 1 0;0;100 19.48 True ENSG00000155858 ENSG00000155858 HGNC:30860 MAGI2 gene MAGI2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Monogenic epilepsy, MONDO:0015653, MAGI2-related 26030165;25497044;31056551 False 1 0;0;100 19.48 True ENSG00000187391 ENSG00000187391 HGNC:18957 MAN2A2 gene MAN2A2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated 36357165 False 1 0;0;100 19.48 True ENSG00000196547 ENSG00000196547 HGNC:6825 MARS gene MARS Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2U, 616280 False 1 0;0;100 19.48 True ENSG00000166986 ENSG00000166986 HGNC:6898 MARS gene MARS Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN;Charcot-Marie-Tooth disease, axonal, type 2U, 616280 23729695;24354524;29655802 False 1 0;50;50 19.48 True ENSG00000166986 ENSG00000166986 HGNC:6898 MAT1A gene MAT1A Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 8770875 False 1 0;0;100 19.48 True ENSG00000151224 ENSG00000151224 HGNC:6903 MCM3AP gene MCM3AP Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM#618124) 32202298 False 1 0;0;100 19.48 True ENSG00000160294 ENSG00000160294 HGNC:6946 ME2 gene ME2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal inborn disorder of energy metabolism MONDO:0019243 39401966 False 1 0;0;100 19.48 True ENSG00000082212 ENSG00000082212 HGNC:6984 MED25 gene MED25 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Charcot-Marie-Tooth disease, type 2B2 MIM#605589" 19290556;30039206 False 1 0;0;100 19.48 True ENSG00000104973 ENSG00000104973 HGNC:28845 MICU2 gene MICU2 Expert Review Red;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cognitive impairment;spasticity;white matter involvement 29053821 False 1 0;0;100 19.48 True ENSG00000165487 ENSG00000165487 HGNC:31830 MIEF1 gene MIEF1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Optic atrophy 14 (MIM#620550) 33632269 False 1 0;100;0 19.48 True ENSG00000100335 ENSG00000100335 HGNC:25979 MIEF2 gene MIEF2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 49, MIM# 619024;Progressive muscle weakness;Exercise intolerance;Ragged red and COX negative fibres;Complex I and IV deficiency 29361167 False 1 0;0;100 19.48 True ENSG00000177427 ENSG00000177427 HGNC:17920 MMADHC gene MMADHC Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1 MIM#277410 15292234;18385497 False 1 0;0;100 19.48 True ENSG00000168288 ENSG00000168288 HGNC:25221 MME gene MME Expert Review Green;Royal Melbourne Hospital;GeneReviews;Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Spinocerebellar ataxia type 43, 617018 27583304 False 1 50;0;50 19.48 False ENSG00000196549 ENSG00000196549 HGNC:7154 MMS19 gene MMS19 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegenerative disease, MONDO:0005559, MMS19-related 38411040 False 1 0;0;100 19.48 True ENSG00000155229 ENSG00000155229 HGNC:13824 MOGS gene MOGS Expert Review Red;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, MIM# 606056 33058492 False 1 0;0;100 19.48 True ENSG00000115275 ENSG00000115275 HGNC:24862 MPLKIP gene MPLKIP Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive 234050 False 1 0;0;100 19.48 False ENSG00000168303 ENSG00000168303 HGNC:16002 MPV17 gene MPV17 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810 29282788 False 1 0;0;100 19.48 True ENSG00000115204 ENSG00000115204 HGNC:7224 MPV17 gene MPV17 Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810;Navajo neurohepatopathy;Pain insensitivity 16582910;16909392;23714749;22508010;185990;11431741 False 1 0;0;100 19.48 True ENSG00000115204 ENSG00000115204 HGNC:7224 MRPL12 gene MRPL12 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation;neurological deterioration;mitochondrial translation deficiency;Combined oxidative phosphorylation deficiency 45, MIM#618951 23603806 False 1 0;0;100 19.48 True ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL42 gene MRPL42 Expert Review Red;Other Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 False 1 0;0;100 19.48 True ENSG00000198015 ENSG00000198015 HGNC:14493 MRPS16 gene MRPS16 Expert list;Expert Review Red;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, 610498 False 1 0;0;100 19.48 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS25 gene MRPS25 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 50, MIM# 619025;Dyskinetic cerebral palsy;Mitochondrial myopathy;Partial agenesis of the corpus callosum" 31039582 False 1 0;0;100 19.48 True ENSG00000131368 ENSG00000131368 HGNC:14511 MRPS28 gene MRPS28 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intrauterine growth retardation;developmental delay;dysmorphism;Combined oxidative phosphorylation deficiency 47, MIM618958 30566640 False 1 0;0;100 19.48 True ENSG00000147586 ENSG00000147586 HGNC:14513 MRVI1 gene MRVI1 Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000072952 ENSG00000072952 HGNC:7237 MT-ATP6 gene MT-ATP6 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MITOCHONDRIAL Leigh syndrome, MONDO:0009723 32042910;29929013 False 1 0;0;100 19.48 True ENSG00000198899 ENSG00000198899 HGNC:7414 MTPAP gene MTPAP Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive, 613672;Ataxia, spastic, 4;Spastic ataxia 4, autosomal recessive 27391121;20970105 False 1 0;0;100 19.48 True ENSG00000107951 ENSG00000107951 HGNC:25532 MT-RNR2 gene MT-RNR2 Expert Review Red;Literature;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders MITOCHONDRIAL 29233888 False 1 0;0;100 19.48 True ENSG00000210082 ENSG00000210082 HGNC:7471 MT-TT gene MT-TT Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MITOCHONDRIAL False 1 0;0;100 19.48 True ENSG00000210195 ENSG00000210195 HGNC:7499 MYH1 gene MYH1 Expert Review Red;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis, MONDO:0005290 33755318 False 1 0;0;100 19.48 True ENSG00000109061 ENSG00000109061 HGNC:7567 MYH11 gene MYH11 Expert Review Red;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aortic aneurysm, familial thoracic 4, 132900;moyamoya-like angiopath 16444274;32081817;29263223;27367753 False 1 0;0;100 19.48 True ENSG00000133392 ENSG00000133392 HGNC:7569 MYH3 gene MYH3 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted paresthesia;rhabdomyolysis 28779239 False 1 50;0;50 19.48 True ENSG00000109063 ENSG00000109063 HGNC:7573 NAT8L gene NAT8L Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal N-acetylaspartate deficiency - MIM#614063 11310630;19807691;32275776 False 1 0;33;67 19.48 True ENSG00000185818 ENSG00000185818 HGNC:26742 NAT8L gene NAT8L Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal N-acetylaspartate deficiency - MIM#614063 11310630;19807691;32275776 False 1 0;50;50 19.48 True ENSG00000185818 ENSG00000185818 HGNC:26742 NDP gene NDP Expert Review Red;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 Norrie disease, MIM#310600 17334993 False 1 50;0;50 19.48 True ENSG00000124479 ENSG00000124479 HGNC:7678 NDUFA10 gene NDUFA10 Expert Review Red;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 22 - MIM#618243 21150889;26741492;28247337 False 1 50;0;50 19.48 True ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Red;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 14, MIM#618236 18306244;31074871 False 1 0;0;100 19.48 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA6 gene NDUFA6 Expert Review Red;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 33, MIM#618253 30245030 False 1 0;0;100 19.48 True ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFAF7 gene NDUFAF7 Expert Review Red;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pathologic myopia 28837730 False 1 0;0;100 19.48 True ENSG00000003509 ENSG00000003509 HGNC:28816 NEFH gene NEFH Expert Review Red;ClinGen Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis MONDO:0004976 False 1 0;0;100 19.48 True ENSG00000100285 ENSG00000100285 HGNC:7737 NME3 gene NME3 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia;Neurodegeneration;Abnormal mitochondrial dynamics 30587587 False 1 0;0;100 19.48 True ENSG00000103024 ENSG00000103024 HGNC:7851 NOL3 gene NOL3 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myoclonus, familial cortical 22926851 False 1 0;0;100 19.48 True ENSG00000140939 ENSG00000140939 HGNC:7869 NR4A2 gene NR4A2 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000153234 ENSG00000153234 HGNC:7981 NRG1 gene NRG1 Expert Review Red;Expert Review;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy MONDO:0005244 35485770 False 1 0;33;67 19.48 True ENSG00000157168 ENSG00000157168 HGNC:7997 OCLN gene OCLN Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 1 251290 False 1 0;0;100 19.48 False ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL Royal Melbourne Hospital;Expert Review Red Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, 309000 False 1 0;0;100 19.48 False ENSG00000122126 ENSG00000122126 HGNC:8108 OCRL gene OCRL Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome MIM#309000 35919034 False 1 0;0;100 19.48 True ENSG00000122126 ENSG00000122126 HGNC:8108 ODC1 gene ODC1 Expert Review Red;Literature;Expert Review Green;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bachmann-Bupp syndrome 619075" 30475435;30239107;34477286 False 1 0;0;100 19.48 True ENSG00000115758 ENSG00000115758 HGNC:8109 OGT gene OGT Expert Review Red;Literature;Expert Review Green;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Intellectual developmental disorder, X-linked 106 MIM#300997" PMID: 28302723;28584052;31296563;31627256;29769320;29606577;29769320;37334838 False 1 33;0;67 19.48 True ENSG00000147162 ENSG00000147162 HGNC:8127 OPA3 gene OPA3 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000125741 ENSG00000125741 HGNC:8142 OSTC gene OSTC Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation PMID: 32267060 False 1 0;0;100 19.48 True ENSG00000198856 ENSG00000198856 HGNC:24448 OSTC gene OSTC Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation PMID: 32267060 False 1 0;0;100 19.48 True ENSG00000198856 ENSG00000198856 HGNC:24448 PANK2 gene PANK2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1 MIM#234200 27303611;18462962 False 1 0;0;100 19.48 True ENSG00000125779 ENSG00000125779 HGNC:15894 PAPSS2 gene PAPSS2 Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 22791835;25594860;31461705;23633440;9771708;19474428 False 1 0;0;100 19.48 True ENSG00000198682 ENSG00000198682 HGNC:8604 PAX6 gene PAX6 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aniridia, 106210;Aniridia, Cerebellar Ataxia, And Mental Retardation False 1 50;0;50 19.48 False ENSG00000007372 ENSG00000007372 HGNC:8620 PCDH12 gene PCDH12 Expert Review Green;Expert Review Red;Royal Melbourne Hospital;GeneReviews;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cerebellar ataxia, dystonia, retinopathy, and dysmorphism 30459466 False 1 50;0;50 19.48 True ENSG00000113555 ENSG00000113555 HGNC:8657 PCLO gene PCLO Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 3, MIM#608027 25832664;32122952 False 1 0;0;100 19.48 True ENSG00000186472 ENSG00000186472 HGNC:13406 PCYT2 gene PCYT2 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal global developmental delay;regression;spastic parapesis or tetraparesis;epilepsy;progressive cerebral and cerebellar atrophy 31637422 False 1 50;0;50 19.48 True ENSG00000185813 ENSG00000185813 HGNC:8756 PDGFRB gene PDGFRB Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 4, MIM# 615007 24518837 False 1 0;0;100 19.48 True ENSG00000113721 ENSG00000113721 HGNC:8804 PET117 gene PET117 Expert Review Red;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063;Developmental delay 28386624 False 1 0;0;100 19.48 True ENSG00000232838 ENSG00000232838 HGNC:40045 PEX7 gene PEX7 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease;Phytanic acid storage disease 20301447;12325024 False 1 0;0;100 19.48 True ENSG00000112357 ENSG00000112357 HGNC:8860 PGAP1 gene PGAP1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 42 24482476 False 1 0;0;100 19.48 True ENSG00000197121 ENSG00000197121 HGNC:25712 PHGDH gene PHGDH Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1 256520;Phosphoglycerate dehydrogenase deficiency 601815 False 1 0;0;100 19.48 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHKB gene PHKB Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 9215682;30397902 False 1 50;0;50 19.48 True ENSG00000102893 ENSG00000102893 HGNC:8927 PIGF gene PIGF Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 33386993 False 1 0;0;100 19.48 True ENSG00000151665 ENSG00000151665 HGNC:8962 PIGF gene PIGF Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM#619356 33386993 False 1 0;0;100 19.48 True ENSG00000151665 ENSG00000151665 HGNC:8962 PIK3R5 gene PIK3R5 Expert Review Red;Expert Review Red;Literature;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 3, OMIM #615217 PubMed: 22065524 False 1 0;0;100 19.48 True ENSG00000141506 ENSG00000141506 HGNC:30035 PLEKHG5 gene PLEKHG5 Expert Review Red;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 17564964 False 1 0;0;100 19.48 True ENSG00000171680 ENSG00000171680 HGNC:29105 PLEKHN1 gene PLEKHN1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sensory Neuropathy 33884296 False 1 0;0;0 19.48 True ENSG00000187583 ENSG00000187583 HGNC:25284 PLP1 gene PLP1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pelizaeus-Merzbacher disease MIM#312080 30046645;19396823 False 1 0;0;100 19.48 True ENSG00000123560 ENSG00000123560 HGNC:9086 PLXNA1 gene PLXNA1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 34054129 False 1 0;0;100 19.48 True ENSG00000114554 ENSG00000114554 HGNC:9099 PLXNC1 gene PLXNC1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malformations of cortical development PMID: 36808730 False 1 0;0;100 19.48 True ENSG00000136040 ENSG00000136040 HGNC:9106 PNPLA4 gene PNPLA4 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 26741492 False 1 0;0;100 19.48 True ENSG00000006757 ENSG00000006757 HGNC:24887 PODXL gene PODXL Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal juvenile-onset Parkinson disease 26864383 False 1 0;0;100 19.48 True ENSG00000128567 ENSG00000128567 HGNC:9171 PODXL gene PODXL Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown juvenile-onset Parkinson disease 26864383;20706633 False 1 0;100;0 19.48 False ENSG00000128567 ENSG00000128567 HGNC:9171 POGLUT1 gene POGLUT1 Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696) 27807076;24387993 False 1 0;100;0 19.48 True ENSG00000163389 ENSG00000163389 HGNC:22954 PPA1 gene PPA1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Galactosaemia, MONDO:0018116 37999237 False 1 0;0;100 19.48 True ENSG00000180817 ENSG00000180817 HGNC:9226 PPARG gene PPARG Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000132170 ENSG00000132170 HGNC:9236 PPIA gene PPIA Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated 34972208 False 1 0;0;100 19.48 True ENSG00000196262 ENSG00000196262 HGNC:9253 PRDM8 gene PRDM8 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 10 MIM#616640 PMID: 2296154;35034233 False 1 0;0;100 19.48 True ENSG00000152784 ENSG00000152784 HGNC:13993 PRF1 gene PRF1 Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 2 603553 23443029;21959744 False 1 0;0;100 19.48 False ENSG00000180644 ENSG00000180644 HGNC:9360 PRICKLE1 gene PRICKLE1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive myoclonic epilepsy 1B, 612437;Progressive Myoclonus Epilepsy with Ataxia 20301774 False 1 0;0;100 19.48 True ENSG00000139174 ENSG00000139174 HGNC:17019 PRICKLE1 gene PRICKLE1 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, MIM# 612437 34597683;30564977;30345727;29790814;26727662;31035234;18976727;30564977 False 1 0;50;50 19.48 True ENSG00000139174 ENSG00000139174 HGNC:17019 PRIMA1 gene PRIMA1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Frontal Lobe Epilepsy MONDO:0002612 PMID: 26339676 False 1 0;0;100 19.48 True ENSG00000175785 ENSG00000175785 HGNC:18319 PSAT1 gene PSAT1 Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 2 616038;?Phosphoserine aminotransferase deficiency 610992 False 1 0;0;100 19.48 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSEN1 gene PSEN1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with brain iron accumulation;Frontotemporal dementia, MIM# 600274 28664294 False 1 0;0;100 19.48 True ENSG00000080815 ENSG00000080815 HGNC:9508 PSEN2 gene PSEN2 Expert Review Red;Other Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism;Alzheimer disease-4 MIM#606889 22118943;26422362;18427071;29692703 False 1 0;0;100 19.48 True ENSG00000143801 ENSG00000143801 HGNC:9509 PSMB8 gene PSMB8 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM# 256040 28895430;23768303 False 1 0;0;100 19.48 True ENSG00000204264 ENSG00000204264 HGNC:9545 PSMG2 gene PSMG2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Proteasome-associated autoinflammatory syndrome 4, MIM# 619183" 30664889 False 1 0;0;100 19.48 False ENSG00000128789 ENSG00000128789 HGNC:24929 PTBP1 gene PTBP1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000011304 ENSG00000011304 HGNC:9583 PTCD1 gene PTCD1 Expert Review Red;Expert Review Red;NHS GMS;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy 25058219 False 1 0;0;100 19.48 True ENSG00000106246 ENSG00000106246 HGNC:22198 PTCH1 gene PTCH1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 7, MIM# 610828 11941477;17001668;29575684;36171624 False 1 0;0;100 19.48 True ENSG00000185920 ENSG00000185920 HGNC:9585 PTH gene PTH Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypoparathyroidism, familial isolated 1, MIM# 146200 29383229 False 1 0;0;100 19.48 True ENSG00000152266 ENSG00000152266 HGNC:9606 PTS gene PTS Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 16601879;32734340 False 1 0;0;100 19.48 True ENSG00000150787 ENSG00000150787 HGNC:9689 PYROXD2 gene PYROXD2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 35055180 False 1 0;0;100 19.48 True ENSG00000119943 ENSG00000119943 HGNC:23517 QDPR gene QDPR Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dihydropteridine Reductase (DHPR) Deficiency, MIM* 612676 2135679 False 1 0;0;100 19.48 True ENSG00000151552 ENSG00000151552 HGNC:9752 RAB11A gene RAB11A Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures 29100083 False 1 0;0;100 19.48 True ENSG00000103769 ENSG00000103769 HGNC:9760 RAB39B gene RAB39B Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 72, MIM# 300271 27943471 False 1 0;0;100 19.48 True ENSG00000155961 ENSG00000155961 HGNC:16499 RARS2 gene RARS2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523;early onset cerebellar ataxia 31429931;17847012;25809939;20635367 False 1 0;0;100 19.48 True ENSG00000146282 ENSG00000146282 HGNC:21406 RELN gene RELN Expert Review Red;Other Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonus-dystonia syndrome MONDO:0000903 32334381;25648840 False 1 0;0;100 19.48 True ENSG00000189056 ENSG00000189056 HGNC:9957 REPS1 gene REPS1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 7 , MIM# 617916" 29395073 False 1 0;0;100 19.48 True ENSG00000135597 ENSG00000135597 HGNC:15578 RIC3 gene RIC3 Expert Review Red;Other Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 27055476;28153381;28606768;32794657 False 1 0;0;100 19.48 True ENSG00000166405 ENSG00000166405 HGNC:30338 RNASEH2A gene RNASEH2A Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4 MIM#610333 20131292 False 1 0;0;100 19.48 True ENSG00000104889 ENSG00000104889 HGNC:18518 RPS6KA3 gene RPS6KA3 Expert Review Red;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) Coffin-Lowry syndrome, 303600 16691578 False 1 0;0;100 19.48 True ENSG00000177189 ENSG00000177189 HGNC:10432 SAR1B gene SAR1B Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, 246700 False 1 50;0;50 19.48 True ENSG00000152700 ENSG00000152700 HGNC:10535 SARS2 gene SARS2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive spastic paraplegia 27279129 False 1 0;0;100 19.48 True ENSG00000104835 ENSG00000104835 HGNC:17697 SCN10A gene SCN10A Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Episodic pain syndrome, familial, 2 MIM#615551;Neurodevelopmental disorder (MONDO#0700092), SCN10A-related" PMID: 28078312 False 1 0;0;100 19.48 True ENSG00000185313 ENSG00000185313 HGNC:10582 SCN9A gene SCN9A Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Dravet syndrome, modifier of} MIM#607208;Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863;Febrile seizures, familial, 3B MIM#613863 19763161;29500686;30834459;23895530;33216760 False 1 0;50;50 19.48 True ENSG00000169432 ENSG00000169432 HGNC:10597 SCP2 gene SCP2 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy 613724 16685654;26497993 False 1 0;0;100 19.48 True ENSG00000116171 ENSG00000116171 HGNC:10606 SDHAF2 gene SDHAF2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown Paragangliomas 2, MIM# 601650 False 1 0;0;100 19.48 True ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC Expert Review Red Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown Mitochondrial disease MONDO:0044970 31469588;29884839 False 1 0;0;0 19.48 False ENSG00000143252 ENSG00000143252 HGNC:10682 SEC23A gene SEC23A Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Craniolenticulosutural dysplasia (MIM# 607812) 16980979;21039434;16980978;27148587 False 1 0;0;100 19.48 True ENSG00000100934 ENSG00000100934 HGNC:10701 SEPSECS gene SEPSECS Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, 613811;cerebellar ataxia and cognitive impairment 29464431 False 1 50;0;50 19.48 True ENSG00000109618 ENSG00000109618 HGNC:30605 SETX gene SETX Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 False ENSG00000107290 ENSG00000107290 HGNC:445 SH3BP4 gene SH3BP4 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HMSN 24627108 False 1 0;0;100 19.48 True ENSG00000130147 ENSG00000130147 HGNC:10826 SLC19A3 gene SLC19A3 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Biotin-thiamine-responsive basal ganglia disease, MIM#607483 False 1 0;0;100 19.48 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC22A5 gene SLC22A5 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intractable epilepsy PMID: 33005244 False 1 50;0;50 19.48 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria 615182 29226520 False 1 0;0;100 19.48 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A22 gene SLC25A22 Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, MIM# 609304 False 1 0;0;100 19.48 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC27A5 gene SLC27A5 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bile acid-CoA ligase deficiency;Disorders of bile acid biosynthesis 22089923;27604308 False 1 0;0;100 19.48 True ENSG00000083807 ENSG00000083807 HGNC:10999 SLC33A1 gene SLC33A1 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic paraplegia 42, autosomal dominant, MIM# 612539" 19061983;20461110 False 1 0;0;100 19.48 True ENSG00000169359 ENSG00000169359 HGNC:95 SLC33A1 gene SLC33A1 Expert Review Red;Expert list;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 42, autosomal dominant;Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD 27935820;19061983 False 1 0;0;100 19.48 True ENSG00000169359 ENSG00000169359 HGNC:95 SLC4A4 gene SLC4A4 Expert Review Red;Expert Review Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278" 33439394 False 1 0;0;100 19.48 True ENSG00000080493 ENSG00000080493 HGNC:11030 SLC52A1 gene SLC52A1 Expert Review Red;Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency, MIM#615026 29122468;17689999 False 1 0;0;100 19.48 True ENSG00000132517 ENSG00000132517 HGNC:30225 SLC7A6OS gene SLC7A6OS Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 12, MIM# 619191;Progressive myoclonus epilepsy 33085104 False 1 0;0;100 19.48 True ENSG00000103061 ENSG00000103061 HGNC:25807 SLIRP gene SLIRP Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy with complex I and IV deficiency 34426662 False 1 0;0;0 19.48 True ENSG00000119705 ENSG00000119705 HGNC:20495 SMARCA4 gene SMARCA4 Expert Review Green;Expert Review Red;Literature;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Refractory seizures 33333793 False 1 50;0;50 19.48 True ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCE1 gene SMARCE1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 5 MIM#616938 PMID: 30548424 False 1 0;0;100 19.48 True ENSG00000073584 ENSG00000073584 HGNC:11109 SMPDL3A gene SMPDL3A Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sensory Neuropathy 33884296 False 1 0;0;100 19.48 True ENSG00000172594 ENSG00000172594 HGNC:17389 SNCB gene SNCB Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia, Lewy body, MIM#127750 15365127;20697047 False 1 0;0;100 19.48 True ENSG00000074317 ENSG00000074317 HGNC:11140 SOD1 gene SOD1 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 False ENSG00000142168 ENSG00000142168 HGNC:11179 SOX11 gene SOX11 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MIM#615866 False 1 0;0;100 19.48 True ENSG00000176887 ENSG00000176887 HGNC:11191 SPART gene SPART Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 False ENSG00000133104 ENSG00000133104 HGNC:18514 SQSTM1 gene SQSTM1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ataxia;dystonia;gaze palsy;neuroregression;cognitive decline;childhood dementia 27545679 False 1 100;0;0 19.48 True ENSG00000161011 ENSG00000161011 HGNC:11280 STAT3 gene STAT3 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown 36935347 False 1 0;0;100 19.48 True ENSG00000168610 ENSG00000168610 HGNC:11364 STEAP3 gene STEAP3 Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234 22031863;25515317;26675350 False 1 0;0;100 19.48 True ENSG00000115107 ENSG00000115107 HGNC:24592 STT3B gene STT3B Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ix 615597 23842455 False 1 0;0;100 19.48 True ENSG00000163527 ENSG00000163527 HGNC:30611 STX11 gene STX11 Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 4 603552 False 1 0;0;100 19.48 False ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP1 gene STXBP1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spasticity;Early infantile epileptic encephalopathy 4 32815282 False 1 0;0;100 19.48 True ENSG00000136854 ENSG00000136854 HGNC:11444 STXBP2 gene STXBP2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 5 613101 False 1 0;0;100 19.48 True ENSG00000076944 ENSG00000076944 HGNC:11445 SUMF1 gene SUMF1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency MIM#272200 36980153;36959582 False 1 0;0;100 19.48 True ENSG00000144455 ENSG00000144455 HGNC:20376 SV2B gene SV2B Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown seizures 23617838;23937191 False 1 0;0;100 19.48 True ENSG00000185518 ENSG00000185518 HGNC:16874 SYNE1 gene SYNE1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092 PMID: 31703138;37096302;30573412 False 1 0;0;100 19.48 True ENSG00000131018 ENSG00000131018 HGNC:17089 SYT14 gene SYT14 Expert Review Red;Royal Melbourne Hospital;GeneReviews;Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellarataxia,autosomalrecessive11,614229 21835308 False 1 0;0;100 19.48 False ENSG00000143469 ENSG00000143469 HGNC:23143 TACO1 gene TACO1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, adult onset 33709035 False 1 0;0;100 19.48 True ENSG00000136463 ENSG00000136463 HGNC:24316 TAF1C gene TAF1C Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), TAF1C-related 32779182 False 1 0;0;100 19.48 True ENSG00000103168 ENSG00000103168 HGNC:11534 TAOK1 gene TAOK1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575 False 1 0;0;100 19.48 True ENSG00000160551 ENSG00000160551 HGNC:29259 TBC1D20 gene TBC1D20 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, MIM# 615663 32740904 False 1 0;0;100 19.48 True ENSG00000125875 ENSG00000125875 HGNC:16133 TBC1D7 gene TBC1D7 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Macrocephaly/megalencephaly syndrome, autosomal recessive MIM#248000 23687350;24515783 False 1 0;0;100 19.48 True ENSG00000145979 ENSG00000145979 HGNC:21066 TDO2 gene TDO2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypertryptophanemia MIM#600627;Disorders of histidine, tryptophan or lysine metabolism 28285122;27604308 False 1 0;0;100 19.48 True ENSG00000151790 ENSG00000151790 HGNC:11708 TET2 gene TET2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia 32330418;31943063 False 1 0;0;100 19.48 True ENSG00000168769 ENSG00000168769 HGNC:25941 TGIF1 gene TGIF1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 4 MIM#142946 False 1 0;0;100 19.48 True ENSG00000177426 ENSG00000177426 HGNC:11776 TGM6 gene TGM6 Expert Review Red;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 35, 613908;Spinocerebellar ataxia 35 25253745;21106500;28934387;22554020;30670339;29053796;23206699 False 1 0;0;100 19.48 True ENSG00000166948 ENSG00000166948 HGNC:16255 TH gene TH Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 False ENSG00000180176 ENSG00000180176 HGNC:11782 TMEM230 gene TMEM230 Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 21, MIM#616361 30804554;27270108;28115417;28017548;30804555;30804556;31323517 False 1 0;100;0 19.48 False ENSG00000089063 ENSG00000089063 HGNC:15876 TMEM5 gene TMEM5 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 MIM#615041 False 1 0;0;100 19.48 True ENSG00000118600 ENSG00000118600 HGNC:13530 TNRC6A gene TNRC6A Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial adult myoclonic, 6 MIM#618074 PMID: 29507423;33040085 False 1 0;0;100 19.48 True ENSG00000090905 ENSG00000090905 HGNC:11969 TOR1AIP1 gene TOR1AIP1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, cerebellar atrophy, and cardiomyopathy 25425325 False 1 0;0;100 19.48 True ENSG00000143337 ENSG00000143337 HGNC:29456 TPP1 gene TPP1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis neuronal 2, MIM#204500 27217339 False 1 0;0;100 19.48 True ENSG00000166340 ENSG00000166340 HGNC:2073 TPR gene TPR Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 34494102 False 1 0;0;100 19.48 True ENSG00000047410 ENSG00000047410 HGNC:12017 TRAPPC2L gene TRAPPC2L Expert Review Red;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 30120216;32843486 False 1 0;50;50 19.48 True ENSG00000167515 ENSG00000167515 HGNC:30887 TRAPPC2L gene TRAPPC2L Expert Review Red;Literature;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 30120216;32843486;36849228 False 1 0;33;67 19.48 True ENSG00000167515 ENSG00000167515 HGNC:30887 TRIM32 gene TRIM32 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110;?Bardet-Biedl syndrome 11, 615988 False 1 50;0;50 19.48 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRIP11 gene TRIP11 Expert Review Red;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 29872333;20089971;30728324;30518689 False 1 0;50;50 19.48 True ENSG00000100815 ENSG00000100815 HGNC:12305 TRIP4 gene TRIP4 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 26924529 False 1 0;0;100 19.48 True ENSG00000103671 ENSG00000103671 HGNC:12310 TRPA1 gene TRPA1 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic pain syndrome, familial, 1;HSAN/SFN 20547126 False 1 0;0;100 19.48 True ENSG00000104321 ENSG00000104321 HGNC:497 TRPC3 gene TRPC3 Expert Review Red;Literature;Expert list;Expert Review Amber;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Spinocerebellar ataxia 41 - 616410 32135163;25477146 False 1 0;50;50 19.48 True ENSG00000138741 ENSG00000138741 HGNC:12335 TRPM6 gene TRPM6 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal, MIM# 602014 22982920 False 1 0;0;100 19.48 True ENSG00000119121 ENSG00000119121 HGNC:17995 TRPV1 gene TRPV1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Channelopathy-associated congenital insensitivity to pain, autosomal recessive - MONDO:0009459 PMID: 36454632;PMID: 36472910 False 1 0;0;100 19.48 True ENSG00000196689 ENSG00000196689 HGNC:12716 TRPV4 gene TRPV4 Expert Review Red;Expert list;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, distal, congenital nonprogressive, 600175 False 1 50;0;50 19.48 True ENSG00000111199 ENSG00000111199 HGNC:18083 TSEN2 gene TSEN2 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, 612389 False 1 0;0;100 19.48 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 2C, 612390 False 1 0;0;100 19.48 True ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN34 gene TSEN34 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2C, MIM#612390 False 1 0;0;100 19.48 True ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN54 gene TSEN54 Expert Review Red;Expert Review Green;Royal Melbourne Hospital;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 5 610204;Pontocerebellar hypoplasia type 4 225753;Pontocerebellar hypoplasia type 2A 277470 23177318 False 1 50;0;50 19.48 True ENSG00000182173 ENSG00000182173 HGNC:27561 TSEN54 gene TSEN54 Expert list;Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown adult-onset cerebellar ataxia 24938831 False 1 0;0;100 19.48 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSPOAP1 gene TSPOAP1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 22, MIM# 620453 33539324 False 1 0;50;50 19.48 True ENSG00000005379 ENSG00000005379 HGNC:16831 TTC8 gene TTC8 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, 615985 False 1 50;0;50 19.48 True ENSG00000165533 ENSG00000165533 HGNC:20087 TTN gene TTN Expert Review Green;Expert Review Red;Expert Review;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital titinopathy;exercise intolerance 31353864 False 1 67;0;33 19.48 True ENSG00000155657 ENSG00000155657 HGNC:12403 TTR gene TTR Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyloidosis, hereditary, transthyretin-related, MIM# 105210 8960746 False 1 0;0;100 19.48 True ENSG00000118271 ENSG00000118271 HGNC:12405 TUBA1A gene TUBA1A Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3, 611603 21403111 False 1 67;0;33 19.48 True ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA8 gene TUBA8 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Epilepsy Flagship Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, MIM#613180 31481326;19896110;28388629 False 1 0;0;100 19.48 True ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB2A gene TUBB2A Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?progressive spastic ataxia syndrome resembling sacsinopathy;Complex cortical dysplasia with other brain malformations 5, 615763 29547997;32203252 False 1 50;0;50 19.48 True ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB4A gene TUBB4A Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 19.48 True ENSG00000104833 ENSG00000104833 HGNC:20774 TYMP gene TYMP Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 24199812 False 1 67;0;33 19.48 True ENSG00000025708 ENSG00000025708 HGNC:3148 U2AF2 gene U2AF2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 34112922;37092751;36747105;37134193 False 1 0;0;100 19.48 True ENSG00000063244 ENSG00000063244 HGNC:23156 UBA1 gene UBA1 Expert Review Red;Expert Review Green;Expert list;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 18179898;32181232;31932168;29034082;27699224;26028276;23518311 False 1 50;0;50 19.48 True ENSG00000130985 ENSG00000130985 HGNC:12469 UCHL1 gene UCHL1 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 False ENSG00000154277 ENSG00000154277 HGNC:12513 UGGT1 gene UGGT1 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 19.48 True ENSG00000136731 ENSG00000136731 HGNC:15663 UNC13B gene UNC13B Expert Review Red;Literature;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy 33876820 False 1 0;0;100 19.48 True ENSG00000198722 ENSG00000198722 HGNC:12566 UNC13D gene UNC13D Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 3 608898 False 1 0;0;100 19.48 True ENSG00000092929 ENSG00000092929 HGNC:23147 UNC80 gene UNC80 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801;MONDO:0014777 26545877 False 1 0;0;100 19.48 True ENSG00000144406 ENSG00000144406 HGNC:26582 VAPB gene VAPB Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders Unknown Amyotrophic lateral sclerosis 8 MIM#608627;Spinal muscular atrophy, late-onset, Finkel type MIM#182980 False 1 0;0;100 19.48 False ENSG00000124164 ENSG00000124164 HGNC:12649 VARS2 gene VARS2 Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 20, MIM# 615917 29314548 False 1 0;0;100 19.48 True ENSG00000137411 ENSG00000137411 HGNC:21642 VPS11 gene VPS11 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 32, MIM# 619637;Dystonia, adult-onset 33452836 False 1 0;0;100 19.48 True ENSG00000160695 ENSG00000160695 HGNC:14583 VPS37A gene VPS37A Expert Review Red;Expert list Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive MIM#614898 22717650 False 1 0;0;100 19.48 True ENSG00000155975 ENSG00000155975 HGNC:24928 VWA3B gene VWA3B Expert Review Red;Royal Melbourne Hospital;GeneReviews Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 22 26157035 False 1 0;0;100 19.48 False ENSG00000168658 ENSG00000168658 HGNC:28385 WASHC4 gene WASHC4 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 43 MIM#615817" PMID: 34599609 False 1 0;0;100 19.48 True ENSG00000136051 ENSG00000136051 HGNC:29174 WASL gene WASL Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson's disease, MONDO:0005180, WASL-related PMID: 33571872 False 1 50;0;50 19.48 True ENSG00000106299 ENSG00000106299 HGNC:12735 WDFY3 gene WDFY3 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly 18, primary, autosomal dominant MIM#617520 PMID: 31327001 False 1 0;0;100 19.48 True ENSG00000163625 ENSG00000163625 HGNC:20751 WDPCP gene WDPCP Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 15, 615992;?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 False 1 50;0;50 19.48 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR48 gene WDR48 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 24482476 False 1 0;0;100 19.48 True ENSG00000114742 ENSG00000114742 HGNC:30914 XPNPEP3 gene XPNPEP3 Expert Review Red;Literature;NHS GMS Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 MIM#613159 20179356;25778941 False 1 0;50;50 19.48 True ENSG00000196236 ENSG00000196236 HGNC:28052 YEATS2 gene YEATS2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Epilepsy, myoclonic, familial adult, 4 MIM#615127 PMID: 22713812;31539032 False 1 0;0;100 19.48 True ENSG00000163872 ENSG00000163872 HGNC:25489 ZDHHC15 gene ZDHHC15 Expert Review Red;Literature;Expert list;Expert Review Red;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) Intellectual disability, X-linked 91, 300577 34345675;15915161;26290131;32989326 False 1 0;0;100 19.48 True ENSG00000102383 ENSG00000102383 HGNC:20342 ZFR gene ZFR Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complicated hereditary spastic paraplegia 24482476 False 1 0;0;100 19.48 True ENSG00000056097 ENSG00000056097 HGNC:17277 ZFYVE27 gene ZFYVE27 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 33, autosomal dominant, MIM#610244 29980238;18606302;16826525 False 1 0;0;100 19.48 True ENSG00000155256 ENSG00000155256 HGNC:26559 ZIC2 gene ZIC2 Expert Review Red;Literature Progressive Neurological Conditions Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 5 MIM#609637 False 1 0;0;100 19.48 True ENSG00000043355 ENSG00000043355 HGNC:12873 ZNF423 gene ZNF423 Expert Review Red;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 14 False 1 0;33;67 19.48 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF592 gene ZNF592 Expert Review Red;Royal Melbourne Hospital Progressive Neurological Conditions Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 5;Galloway-Mowat Syndrome 1, 251300 20531441;26123727 False 1 0;0;100 19.48 True ENSG00000166716 ENSG00000166716 HGNC:28986