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 Tremors_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 3.65 True ENSG00000183044 ENSG00000183044 HGNC:23 AFG3L2 gene AFG3L2 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Tremors_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 3.65 True ENSG00000141385 ENSG00000141385 HGNC:315 AFG3L2 gene AFG3L2 Expert Review Amber;Expert list Tremors_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 3.65 True ENSG00000141385 ENSG00000141385 HGNC:315 ALK gene ALK Expert Review Amber;Literature Tremors_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic-dystonic diplegia PMID: 32989326 False 2 0;100;0 3.65 True ENSG00000171094 ENSG00000171094 HGNC:427 APP gene APP Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Tremors_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease 1, familial, MIM# 104300 False 2 0;100;0 3.65 True ENSG00000142192 ENSG00000142192 HGNC:620 ATP5B gene ATP5B Expert Review Amber;Literature Tremors_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited dystonia, MONDO:0044807, ATP5B-related 36860166 False 2 50;50;0 3.65 True ENSG00000110955 ENSG00000110955 HGNC:830 ATP7B gene ATP7B Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Tremors_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, MIM# 277900 32662046 False 2 0;100;0 3.65 True ENSG00000123191 ENSG00000123191 HGNC:870 CACNB4 gene CACNB4 Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Tremors_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 3.65 True ENSG00000182389 ENSG00000182389 HGNC:1404 CHD8 gene CHD8 Expert Review Amber;Literature Tremors_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, CHD8-related, MIM#615032;Dystonia 34415117 False 2 0;100;0 3.65 True ENSG00000100888 ENSG00000100888 HGNC:20153 CIZ1 gene CIZ1 Expert Review Amber;Royal Melbourne Hospital Tremors_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 23, 614860 27163549;29154038;22447717 False 2 0;100;0 3.65 True ENSG00000148337 ENSG00000148337 HGNC:16744 COASY gene COASY Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Tremors_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, MIM# 615643 28489334;24360804 False 2 0;100;0 3.65 True ENSG00000068120 ENSG00000068120 HGNC:29932 COL6A3 gene COL6A3 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Tremors_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 27, MIM#616411 26004199;32037012;26872670;32037012 False 2 50;50;0 3.65 True ENSG00000163359 ENSG00000163359 HGNC:2213 DDC gene DDC Expert Review Amber;Literature Tremors_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 3.65 True ENSG00000132437 ENSG00000132437 HGNC:2719 DHDDS gene DHDDS Expert Review Amber;Literature Tremors_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 3.65 True ENSG00000117682 ENSG00000117682 HGNC:20603 EPM2A gene EPM2A Expert Review Amber;Literature Tremors_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 3.65 True ENSG00000112425 ENSG00000112425 HGNC:3413 FBXL4 gene FBXL4 Expert Review Amber;Expert list Tremors_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 False 2 0;100;0 3.65 True ENSG00000112234 ENSG00000112234 HGNC:13601 GSX2 gene GSX2 Expert Review Amber;Literature Tremors_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Diencephalic-mesencephalic junction dysplasia syndrome 2 618646;Intellectual disability;Dystonia;Spastic tetra paresis" 31412107 False 2 0;100;0 3.65 True ENSG00000180613 ENSG00000180613 HGNC:24959 HACE1 gene HACE1 Expert Review Amber;Expert list Tremors_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 3.65 True ENSG00000085382 ENSG00000085382 HGNC:21033 JPH3 gene JPH3 Expert Review Amber;Literature Tremors_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal paroxysmal dystonia, intellectual disability PMID: 36273396 False 2 50;50;0 3.65 True ENSG00000154118 ENSG00000154118 HGNC:14203 KCNQ2 gene KCNQ2 Expert Review Amber;Expert list Tremors_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 3.65 True ENSG00000075043 ENSG00000075043 HGNC:6296 KIF1C gene KIF1C Expert Review Amber;Expert list Tremors_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic ataxia 2, autosomal recessive, MIM# 611302" 31413903 False 2 0;100;0 3.65 True ENSG00000129250 ENSG00000129250 HGNC:6317 KIF5A gene KIF5A Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Tremors_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 10, autosomal dominant MIM#604187 18853458 False 2 0;100;0 3.65 True ENSG00000155980 ENSG00000155980 HGNC:6323 MAPT gene MAPT Expert Review Amber;Expert list Tremors_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dementia, frontotemporal, with or without parkinsonism MIM#600274 17319286;15883319 False 2 0;100;0 3.65 True ENSG00000186868 ENSG00000186868 HGNC:6893 NBEA gene NBEA Expert Review Amber;Literature Tremors_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 3.65 True ENSG00000172915 ENSG00000172915 HGNC:7648 NHLRC1 gene NHLRC1 Expert Review Amber;Literature Tremors_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 3.65 True ENSG00000187566 ENSG00000187566 HGNC:21576 NUP54 gene NUP54 Expert Review Amber;Literature Tremors_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 3.65 True ENSG00000138750 ENSG00000138750 HGNC:17359 PNPLA6 gene PNPLA6 Expert Review Amber;Literature Tremors_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 3.65 True ENSG00000032444 ENSG00000032444 HGNC:16268 PRKN gene PRKN Expert Review Amber;Literature Tremors_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 3.65 True ENSG00000185345 ENSG00000185345 HGNC:8607 PTPA gene PTPA Expert Review Amber;Literature Tremors_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability, MONDO: 36073231, PTPA-related;Parkisonism 36073231;37448355 False 2 0;100;0 3.65 True ENSG00000119383 ENSG00000119383 HGNC:9308 RAB32 gene RAB32 Expert Review Amber;Literature Tremors_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923 38614108;38858457 False 2 0;50;50 3.65 True Other ENSG00000118508 ENSG00000118508 HGNC:9772 SAMHD1 gene SAMHD1 Expert Review Amber;Expert list Tremors_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5 MIM#612952 20131292 False 2 0;100;0 3.65 True ENSG00000101347 ENSG00000101347 HGNC:15925 SHQ1 gene SHQ1 Expert Review Amber;Literature Tremors_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dystonia and seizures, MIM# 619922 36847845 False 2 50;50;0 3.65 True ENSG00000144736 ENSG00000144736 HGNC:25543 SPR gene SPR Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services Tremors_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 3.65 True ENSG00000116096 ENSG00000116096 HGNC:11257 UQCRC1 gene UQCRC1 Expert Review Amber;Literature Tremors_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, MIM# 619279 33141179;33248804 False 2 0;100;0 3.65 True ENSG00000010256 ENSG00000010256 HGNC:12585 VAMP1 gene VAMP1 Expert Review Amber;Expert list Tremors_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic ataxia 1, autosomal dominant, MIM# 108600" 22958904 False 2 0;100;0 3.65 True ENSG00000139190 ENSG00000139190 HGNC:12642 XPR1 gene XPR1 Expert Review Amber;Literature Tremors_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 3.65 True ENSG00000143324 ENSG00000143324 HGNC:12827