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 ALPL gene ALPL Expert Review Red;Literature Movement Disorders Superpanel 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 3.208 True ENSG00000162551 ENSG00000162551 HGNC:438 AMPD2 gene AMPD2 Expert Review Red;Other;Expert Review Red;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, 615809 False 1 0;0;100 3.208 True ENSG00000116337 ENSG00000116337 HGNC:469 ANG gene ANG Expert Review Red;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders Unknown Parkinson disease MONDO:0005180 33875291;25386690 False 1 0;0;100 3.208 True ENSG00000214274 ENSG00000214274 HGNC:483 ARL6 gene ARL6 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, 600151 False 1 50;0;50 3.208 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert list;Expert Review Red;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, MIM#617622 False 1 50;0;50 3.208 True ENSG00000135931 ENSG00000135931 HGNC:20730 ATP1A2 gene ATP1A2 Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 1, 104290;Familial hemiplegic migraine 2, 602481 False 1 0;0;100 3.208 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP7B gene ATP7B Royal Melbourne Hospital;Expert Review Red Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease 277900;Wilson disease, 277900 False 1 0;0;100 3.208 False ENSG00000123191 ENSG00000123191 HGNC:870 ATXN10 gene ATXN10 Expert Review Red;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar Ataxia 10;Parkinsonism;OMIM 603516 PMID: 28890930 False 1 100;0;0 3.208 True ENSG00000130638 ENSG00000130638 HGNC:10549 BBS10 gene BBS10 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, 615987 False 1 50;0;50 3.208 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 Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, 615989 False 1 100;0;0 3.208 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 Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, 615981 15637713 False 1 50;0;50 3.208 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, 615982 False 1 50;0;50 3.208 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, 615983 15637713 False 1 50;0;50 3.208 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, 615984 False 1 50;0;50 3.208 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, 615986 False 1 50;0;50 3.208 True ENSG00000122507 ENSG00000122507 HGNC:30000 CACNA1B gene CACNA1B Other;Expert Review Red;Expert Review Red;Other Movement Disorders Superpanel 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 3.208 False ENSG00000148408 ENSG00000148408 HGNC:1389 CACNA1S gene CACNA1S Expert Review Red;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalemic periodic paralysis, type 1, MIM# 170400 11591859 False 1 0;0;100 3.208 True ENSG00000081248 ENSG00000081248 HGNC:1397 CACNB4 gene CACNB4 Victorian Clinical Genetics Services;Royal Melbourne Hospital;Expert list;Expert Review Red;Expert Review Red;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia type 5, 613855 10762541;27003325;9628818 False 1 0;50;50 3.208 False ENSG00000182389 ENSG00000182389 HGNC:1404 CCDC28B gene CCDC28B Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders Other {Bardet-Biedl syndrome 1, modifier of}, 209900 False 1 0;33;67 3.208 True ENSG00000160050 ENSG00000160050 HGNC:28163 CHCHD10 gene CHCHD10 Literature;Expert Review Red;Expert Review Red;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 24934289 False 1 0;0;100 3.208 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHMP1A gene CHMP1A Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, 614961 False 1 50;0;50 3.208 True ENSG00000131165 ENSG00000131165 HGNC:8740 CHMP2B gene CHMP2B Expert Review Red;Royal Melbourne Hospital Movement Disorders Superpanel 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 3.208 True ENSG00000083937 ENSG00000083937 HGNC:24537 CYP2U1 gene CYP2U1 Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, 615030 False 1 0;0;100 3.208 True ENSG00000155016 ENSG00000155016 HGNC:20582 DAB1 gene DAB1 Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, DAB1-related PMID: 33928188 False 1 33;33;33 3.208 True ENSG00000173406 ENSG00000173406 HGNC:2661 DCAF17 gene DCAF17 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 3.208 True ENSG00000115827 ENSG00000115827 HGNC:25784 DCTN1 gene DCTN1 Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Perry syndrome MIM#168605 24343258 False 1 0;0;100 3.208 True ENSG00000204843 ENSG00000204843 HGNC:2711 DNAJC13 gene DNAJC13 Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 30788857;24218364;29309590;31082451;29887357;27270108 False 1 0;100;0 3.208 True ENSG00000138246 ENSG00000138246 HGNC:30343 EARS2 gene EARS2 Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12 MIM#614924 22492562 False 1 0;0;100 3.208 True ENSG00000103356 ENSG00000103356 HGNC:29419 EEF2 gene EEF2 Victorian Clinical Genetics Services;GeneReviews;Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 26 15732118;23001565 False 1 0;0;0 3.208 False ENSG00000167658 ENSG00000167658 HGNC:3214 ELOVL1 gene ELOVL1 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 False 1 0;33;67 3.208 True ENSG00000066322 ENSG00000066322 HGNC:14418 EXOSC3 gene EXOSC3 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, 614678 False 1 100;0;0 3.208 True ENSG00000107371 ENSG00000107371 HGNC:17944 FUS gene FUS Expert Review Red;Literature Movement Disorders Superpanel 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 3.208 True ENSG00000089280 ENSG00000089280 HGNC:4010 GIGYF2 gene GIGYF2 Expert Review Red;Literature Movement Disorders Superpanel 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 3.208 True ENSG00000204120 ENSG00000204120 HGNC:11960 GPR88 gene GPR88 Expert Review Red;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal chorea, childhood-onset, with psychomotor retardation MONDO:0014839 27123486 False 1 0;0;100 3.208 True ENSG00000181656 ENSG00000181656 HGNC:4539 HARS2 gene HARS2 Expert Review Red;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 2, MIM# 614926" 31827252 False 1 0;0;100 3.208 True ENSG00000112855 ENSG00000112855 HGNC:4817 HEXA gene HEXA Expert Review Red;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM2 Gangliosidosis;Tay-Sachs disease;Parkinsonism;OMIM 272800 PMID: 33069254 False 1 50;0;50 3.208 True ENSG00000213614 ENSG00000213614 HGNC:4878 IFRD1 gene IFRD1 Literature;Expert Review Red;Expert Review;Expert Review Red;Expert Review Red;Expert Review;Expert Review Red;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary spastic paraplegia MONDO:0019064, IFRD1-related 29362493;28601596;19409521 False 1 0;0;100 3.208 False ENSG00000006652 ENSG00000006652 HGNC:5456 KCNJ15 gene KCNJ15 Expert Review Red;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease, MONDO:0005180, KCNJ15-related 40566643 False 1 0;0;100 3.208 True ENSG00000157551 ENSG00000157551 HGNC:6261 MAT1A gene MAT1A Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 8770875 False 1 0;0;100 3.208 True ENSG00000151224 ENSG00000151224 HGNC:6903 MMADHC gene MMADHC Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1 MIM#277410 15292234;18385497 False 1 0;0;100 3.208 True ENSG00000168288 ENSG00000168288 HGNC:25221 MME gene MME Victorian Clinical Genetics Services;Expert Review Red;GeneReviews;Royal Melbourne Hospital;Expert Review Green;Royal Melbourne Hospital;GeneReviews;Expert Review Red Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Spinocerebellar ataxia type 43, 617018 27583304 False 1 0;0;100 3.208 False ENSG00000196549 ENSG00000196549 HGNC:7154 MOGS gene MOGS Expert Review Red;Expert Review Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, MIM# 606056 33058492 False 1 0;0;100 3.208 True ENSG00000115275 ENSG00000115275 HGNC:24862 MPV17 gene MPV17 Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810 29282788 False 1 0;0;100 3.208 True ENSG00000115204 ENSG00000115204 HGNC:7224 MT-ND6 gene MT-ND6 Expert Review Red;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MITOCHONDRIAL Leber Optic Atrophy;Parkinsonism;OMIM 516006 PMID: 33109474 False 1 50;0;50 3.208 True ENSG00000198695 ENSG00000198695 HGNC:7462 NOL3 gene NOL3 Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myoclonus, familial cortical 22926851 False 1 0;0;100 3.208 False ENSG00000140939 ENSG00000140939 HGNC:7869 OPA3 gene OPA3 Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 3.208 True ENSG00000125741 ENSG00000125741 HGNC:8142 PAX6 gene PAX6 Expert Review Red;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aniridia, 106210;Aniridia, Cerebellar Ataxia, And Mental Retardation False 1 50;0;50 3.208 False ENSG00000007372 ENSG00000007372 HGNC:8620 PCDH12 gene PCDH12 Expert Review Green;Expert Review Red;Royal Melbourne Hospital;GeneReviews;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cerebellar ataxia, dystonia, retinopathy, and dysmorphism 30459466 False 1 50;0;50 3.208 True ENSG00000113555 ENSG00000113555 HGNC:8657 PCYT2 gene PCYT2 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal global developmental delay;regression;spastic parapesis or tetraparesis;epilepsy;progressive cerebral and cerebellar atrophy 31637422 False 1 50;0;50 3.208 True ENSG00000185813 ENSG00000185813 HGNC:8756 PDGFRB gene PDGFRB Expert Review Red;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 4, MIM# 615007 24518837 False 1 0;0;100 3.208 True ENSG00000113721 ENSG00000113721 HGNC:8804 PIK3R5 gene PIK3R5 Expert Review Red;Expert Review Red;Literature;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 3, OMIM #615217 PubMed: 22065524 False 1 0;0;100 3.208 True ENSG00000141506 ENSG00000141506 HGNC:30035 PLP1 gene PLP1 Expert Review Red;Expert list Movement Disorders Superpanel 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 3.208 True ENSG00000123560 ENSG00000123560 HGNC:9086 PODXL gene PODXL Expert list;Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal juvenile-onset Parkinson disease 26864383 False 1 0;0;100 3.208 False ENSG00000128567 ENSG00000128567 HGNC:9171 PODXL gene PODXL Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders Unknown juvenile-onset Parkinson disease 26864383;20706633 False 1 0;100;0 3.208 False ENSG00000128567 ENSG00000128567 HGNC:9171 PRICKLE1 gene PRICKLE1 Expert Review Red;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive myoclonic epilepsy 1B, 612437;Progressive Myoclonus Epilepsy with Ataxia 20301774 False 1 0;0;100 3.208 True ENSG00000139174 ENSG00000139174 HGNC:17019 PSEN2 gene PSEN2 Expert Review Red;Other Movement Disorders Superpanel 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 3.208 True ENSG00000143801 ENSG00000143801 HGNC:9509 RARS2 gene RARS2 Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523;early onset cerebellar ataxia 31429931;17847012;25809939;20635367 False 1 0;0;100 3.208 True ENSG00000146282 ENSG00000146282 HGNC:21406 RELN gene RELN Other;Expert Review Red;Expert Review Red;Other Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonus-dystonia syndrome MONDO:0000903 32334381;25648840 False 1 0;0;100 3.208 False ENSG00000189056 ENSG00000189056 HGNC:9957 RIC3 gene RIC3 Expert Review Red;Other Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 27055476;28153381;28606768;32794657 False 1 0;0;100 3.208 True ENSG00000166405 ENSG00000166405 HGNC:30338 RNASEH2A gene RNASEH2A Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4 MIM#610333 20131292 False 1 0;0;100 3.208 True ENSG00000104889 ENSG00000104889 HGNC:18518 SAR1B gene SAR1B Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, 246700 False 1 50;0;50 3.208 True ENSG00000152700 ENSG00000152700 HGNC:10535 SEPSECS gene SEPSECS Victorian Clinical Genetics Services;Expert list;Expert Review Red;Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, 613811;cerebellar ataxia and cognitive impairment 29464431 False 1 0;0;100 3.208 False ENSG00000109618 ENSG00000109618 HGNC:30605 SLC20A2 gene SLC20A2 Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal ganglia calcification, idiopathic, 1, MIM# 213600;Paroxysmal kinesigenic dyskinesia 22327515;23334463;24411498 False 1 0;0;100 3.208 True ENSG00000168575 ENSG00000168575 HGNC:10947 SLC27A3 gene SLC27A3 Expert Review Red;Literature;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related PMID: 41054338 False 1 0;0;100 3.208 True ENSG00000143554 ENSG00000143554 HGNC:10997 SYT14 gene SYT14 Victorian Clinical Genetics Services;Expert Review Red;GeneReviews;Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellarataxia,autosomalrecessive11,614229 21835308 False 1 0;0;100 3.208 False ENSG00000143469 ENSG00000143469 HGNC:23143 TGM6 gene TGM6 Victorian Clinical Genetics Services;Royal Melbourne Hospital;Expert Review Red;Expert Review Red;Expert Review Red;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 35, 613908;Spinocerebellar ataxia 35 25253745;21106500;28934387;22554020;30670339;29053796;23206699 False 1 0;0;100 3.208 False ENSG00000166948 ENSG00000166948 HGNC:16255 TMEM230 gene TMEM230 Expert list Movement Disorders Superpanel 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 3.208 False ENSG00000089063 ENSG00000089063 HGNC:15876 TOR1AIP1 gene TOR1AIP1 Expert Review Red;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, cerebellar atrophy, and cardiomyopathy 25425325 False 1 0;0;100 3.208 True ENSG00000143337 ENSG00000143337 HGNC:29456 TPR gene TPR Expert Review Red;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 34494102 False 1 0;0;100 3.208 True ENSG00000047410 ENSG00000047410 HGNC:12017 TRIM32 gene TRIM32 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110;?Bardet-Biedl syndrome 11, 615988 False 1 50;0;50 3.208 True ENSG00000119401 ENSG00000119401 HGNC:16380 TSEN2 gene TSEN2 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, 612389 False 1 0;0;100 3.208 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Red;Expert list;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 2C, 612390 False 1 0;0;100 3.208 True ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN54 gene TSEN54 Expert list;Expert Review Red;Expert list;Expert list;Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown adult-onset cerebellar ataxia 24938831 False 1 0;0;100 3.208 False ENSG00000182173 ENSG00000182173 HGNC:27561 TTC8 gene TTC8 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, 615985 False 1 50;0;50 3.208 True ENSG00000165533 ENSG00000165533 HGNC:20087 TUBA1A gene TUBA1A Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3, 611603 21403111 False 1 67;0;33 3.208 True ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB2A gene TUBB2A Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?progressive spastic ataxia syndrome resembling sacsinopathy;Complex cortical dysplasia with other brain malformations 5, 615763 29547997;32203252 False 1 50;0;50 3.208 True ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB4A gene TUBB4A Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 3.208 True ENSG00000104833 ENSG00000104833 HGNC:20774 UBR4 gene UBR4 Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted early onset episodic ataxia;nystagmus;myokymia;tremor 23982692;29062094 False 1 0;0;100 3.208 True ENSG00000127481 ENSG00000127481 HGNC:30313 UNC80 gene UNC80 Expert Review Red;Expert list Movement Disorders Superpanel 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 3.208 True ENSG00000144406 ENSG00000144406 HGNC:26582 VPS11 gene VPS11 Literature;Expert Review Red;Expert Review Red;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 32, MIM# 619637;Dystonia, adult-onset 33452836 False 1 0;0;100 3.208 False ENSG00000160695 ENSG00000160695 HGNC:14583 VPS37A gene VPS37A Expert Review Red;Expert list Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive MIM#614898 22717650 False 1 0;0;100 3.208 True ENSG00000155975 ENSG00000155975 HGNC:24928 WASL gene WASL Expert Review Red;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson's disease, MONDO:0005180, WASL-related PMID: 33571872 False 1 50;0;50 3.208 True ENSG00000106299 ENSG00000106299 HGNC:12735 WDPCP gene WDPCP Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 15, 615992;?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 False 1 50;0;50 3.208 True ENSG00000143951 ENSG00000143951 HGNC:28027 ZNF423 gene ZNF423 Expert Review Red;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 14 False 1 0;33;67 3.208 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF592 gene ZNF592 Expert Review Red;Royal Melbourne Hospital Movement Disorders Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 5;Galloway-Mowat Syndrome 1, 251300 20531441;26123727 False 1 0;0;100 3.208 True ENSG00000166716 ENSG00000166716 HGNC:28986 LMNB1 upstream region region Literature;Literature Movement Disorders Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215 PMID: 30842973;30697589;25701871 False 1 100;0;0 3.208 False 5 126522203 126689287 80 cnv_loss LMNB1 upstream region