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 ABAT gene ABAT Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency, MIM# 613163;intellectual disability;autism;DEE;epilepsy;paroxysmal dyskinesia 30617166 False 2 0;100;0 3.208 True ENSG00000183044 ENSG00000183044 HGNC:23 ACBD5 gene ACBD5 Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy;syndromic cleft palate;ataxia;retinal dystrophy 27799409;23105016 False 2 50;50;0 3.208 True ENSG00000107897 ENSG00000107897 HGNC:23338 AFG3L2 gene AFG3L2 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 28, MIM# 610246;optic atrophy;spastic ataxia;L-dopa-responsive parkinsonism 30252181;36110148 False 2 33;33;33 3.208 True ENSG00000141385 ENSG00000141385 HGNC:315 AFG3L2 gene AFG3L2 Expert Review Amber;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive MIM#614487;Early-onset dystonia 22964162;16541453;32219868;36110148 False 2 33;0;67 3.208 True ENSG00000141385 ENSG00000141385 HGNC:315 ALK gene ALK Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic-dystonic diplegia PMID: 32989326 False 2 0;100;0 3.208 True ENSG00000171094 ENSG00000171094 HGNC:427 APP gene APP Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease 1, familial, MIM# 104300 False 2 0;100;0 3.208 True ENSG00000142192 ENSG00000142192 HGNC:620 ARFGEF3 gene ARFGEF3 Literature;Expert Review Amber;Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, MONDO:0044807, ARFGEF3-related PMID: 33098801 False 2 50;50;0 3.208 False ENSG00000112379 ENSG00000112379 HGNC:21213 ATG5 gene ATG5 Expert Review Amber;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 25 16625204;26812546 False 2 0;100;0 3.208 True ENSG00000057663 ENSG00000057663 HGNC:589 ATP5B gene ATP5B Expert Review Amber;Literature;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 38, susceptibility to, MIM# 621502 36860166;40276935 False 2 50;50;0 3.208 True ENSG00000110955 ENSG00000110955 HGNC:830 ATP7B gene ATP7B Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, MIM# 277900 32662046 False 2 0;100;0 3.208 True ENSG00000123191 ENSG00000123191 HGNC:870 C17orf80 gene C17orf80 Expert Review Amber;Literature;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 41720819 False 2 0;100;0 3.208 True ENSG00000141219 ENSG00000141219 HGNC:29601 CACNB4 gene CACNB4 Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 5, MIM#613855 10762541;9628818;27003325 False 2 0;100;0 3.208 True ENSG00000182389 ENSG00000182389 HGNC:1404 CACNB4 gene CACNB4 Expert Review Red;Expert list;Expert Review Amber;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 5, MIM#613855 10762541;9628818;27003325 False 2 0;50;50 3.208 True ENSG00000182389 ENSG00000182389 HGNC:1404 CAPN1 gene CAPN1 Expert list;Expert Review Amber;Expert list;Expert Review Green;Expert Review Green;Expert list;Expert Review Amber;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 76, autosomal recessive, 616907;MONDO:0014827 27320912;29678961;30572172;31023339;31104286 False 2 50;50;0 3.208 False ENSG00000014216 ENSG00000014216 HGNC:1476 CCDC88C gene CCDC88C Victorian Clinical Genetics Services;GeneReviews;Royal Melbourne Hospital;Expert Review Amber;Expert Review Amber;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant spinocerebellar ataxia;?Spinocerebellar ataxia 40, 616053 25062847;30398676 False 2 33;67;0 3.208 False ENSG00000015133 ENSG00000015133 HGNC:19967 CHD8 gene CHD8 Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, CHD8-related, MIM#615032;Dystonia 34415117 False 2 0;100;0 3.208 True ENSG00000100888 ENSG00000100888 HGNC:20153 CHP1 gene CHP1 Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM #618438 29379881;32787936 False 2 50;50;0 3.208 True ENSG00000187446 ENSG00000187446 HGNC:17433 CIZ1 gene CIZ1 Royal Melbourne Hospital;Expert Review Amber;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 23, 614860 27163549;29154038;22447717 False 2 0;100;0 3.208 False ENSG00000148337 ENSG00000148337 HGNC:16744 COASY gene COASY Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, MIM# 615643 28489334;24360804 False 2 0;100;0 3.208 True ENSG00000068120 ENSG00000068120 HGNC:29932 COL6A3 gene COL6A3 Victorian Clinical Genetics Services;Royal Melbourne Hospital;Expert Review Amber;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 27, MIM#616411 26004199;32037012;26872670;32037012 False 2 50;50;0 3.208 False ENSG00000163359 ENSG00000163359 HGNC:2213 DDC gene DDC Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, MIM# 608643;Infantile-onset parkinsonism & dystonia;Bulbar dysfunction;Oculogyric crisis;Autonomic dysfunction;Intellectual disability PMID: 33983693 False 2 50;50;0 3.208 True ENSG00000132437 ENSG00000132437 HGNC:2719 DHDDS gene DHDDS Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay and seizures with or without movement abnormalities, MIM# 617836;Myoclonic Epilepsy;Parkinsonism;Ataxia;Intellectual disability PMID: 34837344;29100083 False 2 50;50;0 3.208 True ENSG00000117682 ENSG00000117682 HGNC:20603 EPM2A gene EPM2A Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780;Progressive Myoclonic Epilepsy;Parkinsonism 27574708;28818698 False 2 50;50;0 3.208 True ENSG00000112425 ENSG00000112425 HGNC:3413 FBXL4 gene FBXL4 Expert Review Amber;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 False 2 0;100;0 3.208 True ENSG00000112234 ENSG00000112234 HGNC:13601 HACE1 gene HACE1 Expert Review Amber;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 26424145;26437029 False 2 0;100;0 3.208 True ENSG00000085382 ENSG00000085382 HGNC:21033 HARS gene HARS Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal multisystem ataxic syndrome 32333447 False 2 33;67;0 3.208 True ENSG00000170445 ENSG00000170445 HGNC:4816 JPH3 gene JPH3 Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal paroxysmal dystonia, intellectual disability PMID: 36273396 False 2 50;50;0 3.208 True ENSG00000154118 ENSG00000154118 HGNC:14203 KCNQ2 gene KCNQ2 Expert Review Amber;Expert list;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 7, 613720;Myokymia, 121200 22169383;20962009;10575255 False 2 33;67;0 3.208 True ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ2 gene KCNQ2 Expert Review Amber;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 7 MIM#613720 12742592;32585800 False 2 0;100;0 3.208 True ENSG00000075043 ENSG00000075043 HGNC:6296 KIF1C gene KIF1C Expert Review Amber;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic ataxia 2, autosomal recessive, MIM# 611302" 31413903 False 2 0;100;0 3.208 True ENSG00000129250 ENSG00000129250 HGNC:6317 KIF5A gene KIF5A Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 10, autosomal dominant MIM#604187 18853458 False 2 0;100;0 3.208 True ENSG00000155980 ENSG00000155980 HGNC:6323 MAPK8IP3 gene MAPK8IP3 Expert Review Amber;Literature;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 30612693;30945334 False 2 0;100;0 3.208 True ENSG00000138834 ENSG00000138834 HGNC:6884 MAPT gene MAPT Expert Review Amber;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dementia, frontotemporal, with or without parkinsonism MIM#600274 17319286;15883319 False 2 0;100;0 3.208 True ENSG00000186868 ENSG00000186868 HGNC:6893 MKKS gene MKKS Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6, 605231 15637713 False 2 67;33;0 3.208 True ENSG00000125863 ENSG00000125863 HGNC:7108 MRPS36 gene MRPS36 Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related PMID: 41018056;38685873 False 2 0;100;0 3.208 True ENSG00000134056 ENSG00000134056 HGNC:16631 MTPAP gene MTPAP Expert Review Green;Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Ataxia, spastic, 4,;Autosomal recessive spastic ataxia 4, 613672 20970105;26319014;25008111 False 2 50;50;0 3.208 True ENSG00000107951 ENSG00000107951 HGNC:25532 MT-TC gene MT-TC Expert Review Amber;Expert list;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TC-related 8829635;9185178;17241783;11453453;16955414;32169613;36039763;17724295;35252560;34433719;30030363 False 2 0;100;0 3.208 True ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TC gene MT-TC Expert Review Amber;Expert list;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TC-related 8829635;9185178;17241783;11453453;16955414;32169613;36039763;17724295;35252560;34433719;30030363 False 2 0;100;0 3.208 True ENSG00000210140 ENSG00000210140 HGNC:7477 NBEA gene NBEA Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157;Paroxysmal Kinesigenic Dyskinesia;DEE;autism;intellectual disability 33692494 False 2 0;100;0 3.208 True ENSG00000172915 ENSG00000172915 HGNC:7648 NHLRC1 gene NHLRC1 Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780;Lafora disease;Progressive Myoclonic Epilepsy;Parkinsonism 22425593;32301727 False 2 50;50;0 3.208 True ENSG00000187566 ENSG00000187566 HGNC:21576 NUP54 gene NUP54 Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 37, early-onset, with striatal lesions, MIM# 620427;Early onset dystonia;progressive neurological deterioration;ataxia;dysarthria;dysphagia;hypotonia 36333996 False 2 0;100;0 3.208 True ENSG00000138750 ENSG00000138750 HGNC:17359 PCNA gene PCNA Expert Review Amber;ClinGen Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hereditary ataxia MONDO:0100309 24911150, 33426167, 36990216 False 2 0;100;0 3.208 True ENSG00000132646 ENSG00000132646 HGNC:8729 PLD3 gene PLD3 GeneReviews;Royal Melbourne Hospital;Expert Review Amber;Expert Review Amber;Royal Melbourne Hospital;GeneReviews Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 46 29053796;30312375;30312384;38059248 False 2 0;100;0 3.208 False ENSG00000105223 ENSG00000105223 HGNC:17158 PNPLA6 gene PNPLA6 Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149 32623594;36825042 False 2 0;100;0 3.208 True ENSG00000032444 ENSG00000032444 HGNC:16268 PRKCG gene PRKCG Expert Review Amber;Expert Review Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 14, MIM# 605361 34292398 False 2 0;100;0 3.208 True ENSG00000126583 ENSG00000126583 HGNC:9402 PRKN gene PRKN Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease, juvenile, type 2 MIM#600116;paroxysmal exercise induced dyskinesia;fasting induced dyskinesia;early onset parkinsonism 37205242 False 2 0;100;0 3.208 True ENSG00000185345 ENSG00000185345 HGNC:8607 PRPS1 gene PRPS1 Literature;Expert Review Amber;Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy 33898739;28967191 False 2 0;100;0 3.208 False ENSG00000147224 ENSG00000147224 HGNC:9462 PTPA gene PTPA Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability, MONDO: 36073231, PTPA-related;Parkinson disease MONDO:0005180, PTPA-related 36073231;37448355;37046398 False 2 0;100;0 3.208 True ENSG00000119383 ENSG00000119383 HGNC:9308 RFXANK gene RFXANK Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive Ataxia and Neurologic Regression;MHC class II deficiency, complementation group B MIM#209920 PMID: 33855173;23314770;28676232 False 2 50;50;0 3.208 True ENSG00000064490 ENSG00000064490 HGNC:9987 SAMHD1 gene SAMHD1 Expert Review Amber;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5 MIM#612952 20131292 False 2 0;100;0 3.208 True ENSG00000101347 ENSG00000101347 HGNC:15925 SDHA gene SDHA Expert list;Expert Review Amber;Expert Review Amber;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 10976639;27683074 False 2 0;100;0 3.208 False ENSG00000073578 ENSG00000073578 HGNC:10680 SHQ1 gene SHQ1 Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dystonia and seizures, MIM# 619922 36847845 False 2 50;50;0 3.208 True ENSG00000144736 ENSG00000144736 HGNC:25543 SIDT2 gene SIDT2 Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lysosomal storage disease, MONDO:0002561, SIDT2-related PMID: 40541391 False 2 0;100;0 3.208 True ENSG00000149577 ENSG00000149577 HGNC:24272 SPR gene SPR Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 32591469 False 2 0;100;0 3.208 True ENSG00000116096 ENSG00000116096 HGNC:11257 SYNGAP1 gene SYNGAP1 Expert Review Amber;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant mental retardation 5, 612621 26989088 False 2 0;100;0 3.208 True ENSG00000197283 ENSG00000197283 HGNC:11497 TDP1 gene TDP1 Expert Review Amber;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 31182267;12244316;39576382 False 2 0;100;0 3.208 True ENSG00000042088 ENSG00000042088 HGNC:18884 TENM4 gene TENM4 Literature;Expert Review Amber;Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tremor, hereditary essential, 5 MONDO:0014756 41449293;36689009;26188006;29249217;34589676;22915103 False 2 0;100;0 3.208 False ENSG00000149256 ENSG00000149256 HGNC:29945 THG1L gene THG1L Expert Review Amber;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800 27307223;30214071;31168944 False 2 0;100;0 3.208 True ENSG00000113272 ENSG00000113272 HGNC:26053 TMEM138 gene TMEM138 Expert Review Amber;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 16, MIM# 614465" False 2 0;100;0 3.208 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM231 gene TMEM231 Expert Review Amber;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;Meckel syndrome 11 615397 False 2 0;100;0 3.208 True ENSG00000205084 ENSG00000205084 HGNC:37234 TRPC3 gene TRPC3 GeneReviews;Royal Melbourne Hospital;Expert Review Amber;Expert Review Amber;Royal Melbourne Hospital;GeneReviews Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 25477146;26112884 False 2 0;100;0 3.208 False ENSG00000138741 ENSG00000138741 HGNC:12335 UBA5 gene UBA5 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Autosomal recessive spinocerebellar ataxia 24, 617133;Early infantile epileptic encephalopathy 44, 617132 26872069;29902590 False 2 0;100;0 3.208 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBR4 gene UBR4 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Episodic ataxia;Episodic ataxia type 8, 616055 29062094;23982692;28600779 False 2 0;100;0 3.208 True ENSG00000127481 ENSG00000127481 HGNC:30313 UQCRC1 gene UQCRC1 Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, MIM# 619279 33141179;33248804 False 2 50;50;0 3.208 True ENSG00000010256 ENSG00000010256 HGNC:12585 VAMP1 gene VAMP1 Royal Melbourne Hospital;Expert Review Amber;Expert Review Amber Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant spastic ataxia 1, 108600;Spastic ataxia 1, autosomal dominant, 108600 22958904 False 2 0;100;0 3.208 False ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP1 gene VAMP1 Expert Review Amber;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic ataxia 1, autosomal dominant, MIM# 108600" 22958904 False 2 0;100;0 3.208 True ENSG00000139190 ENSG00000139190 HGNC:12642 VRK1 gene VRK1 Expert Review Amber;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, 607596 19646678;21937992;25609612;24126608;27281532 False 2 0;100;0 3.208 True ENSG00000100749 ENSG00000100749 HGNC:12718 XPR1 gene XPR1 Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 6, MIM# 616413;brain calcification;basal ganglia calcification;paroxysmal dyskinesia;epilepsy;DEE 33433330 False 2 0;100;0 3.208 True ENSG00000143324 ENSG00000143324 HGNC:12827 ZFYVE26 gene ZFYVE26 Royal Melbourne Hospital;Expert Review Amber;Expert Review Amber;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic paraplegia 15, 270700 24367272;18394578 False 2 0;100;0 3.208 False ENSG00000072121 ENSG00000072121 HGNC:20761 THAP11_SCA51_CAG str THAP11 Literature;Expert Review Amber;Expert Review Amber;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 51 MONDO:0975800 15368101;24677642;34165550;38113319;40459937;39651830;37148549 False 2 0;100;0 3.208 False ENSG00000168286 ENSG00000168286 HGNC:23194 16 67876766 67876853 67842863 67842950 CAG 39 47