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 ACTB gene ACTB Expert Review Green;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 False 3 100;0;0 0.12 False ENSG00000075624 ENSG00000075624 HGNC:132 GNAL gene GNAL Expert Review Green;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 25, 615073 False 3 100;0;0 0.12 False ENSG00000141404 ENSG00000141404 HGNC:4388 NKX2-1 gene NKX2-1 Expert Review Green;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chorea, hereditary benign 118700;Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 False 3 100;0;0 0.12 False ENSG00000136352 ENSG00000136352 HGNC:11825 SUOX gene SUOX Expert Review Green;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency, 272300 False 3 100;0;0 0.12 False ENSG00000139531 ENSG00000139531 HGNC:11460 ARSA gene ARSA Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, 250100 False 2 0;100;0 0.12 False ENSG00000100299 ENSG00000100299 HGNC:713 ARX gene ARX Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Partington Syndrome, 300382 False 2 0;100;0 0.12 False ENSG00000004848 ENSG00000004848 HGNC:18060 AUH gene AUH Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown 3-methylglutaconic aciduria, type I, 250950 False 2 0;100;0 0.12 False ENSG00000148090 ENSG00000148090 HGNC:890 CYP27A1 gene CYP27A1 Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown Cerebrotendinous xanthomatosis, CTX, 213700 False 2 0;100;0 0.12 False ENSG00000135929 ENSG00000135929 HGNC:2605 FOXG1 gene FOXG1 Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rett Syndrome, congenital variant, 613454 False 2 0;100;0 0.12 False ENSG00000176165 ENSG00000176165 HGNC:3811 HEXA gene HEXA Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms 272800;[Hex A pseudodeficiency] 272800 AR;Tay-Sachs disease 272800 False 2 0;100;0 0.12 False ENSG00000213614 ENSG00000213614 HGNC:4878 HPRT1 gene HPRT1 Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, 300322 False 2 0;100;0 0.12 False ENSG00000165704 ENSG00000165704 HGNC:5157 L2HGDH gene L2HGDH Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown L-2-hydroxyglutaric aciduria, 236792 False 2 0;100;0 0.12 False ENSG00000087299 ENSG00000087299 HGNC:20499 NPC2 gene NPC2 Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2, 607625 False 2 0;100;0 0.12 False ENSG00000119655 ENSG00000119655 HGNC:14537 PCDH12 gene PCDH12 Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280;microcephaly;epilepsy;midbrain abnormalities;perithalamic hyperechogenicity;hypothalamic abnormalities;intellectual disability False 2 0;100;0 0.12 False ENSG00000113555 ENSG00000113555 HGNC:8657 PLP1 gene PLP1 Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH X-LINKED: hemizygous mutation in males, biallelic mutations in females Pelizaeus-Merzbacher disease, 312080;Spastic paraplegia 2, X-linked, 312920 False 2 0;100;0 0.12 False ENSG00000123560 ENSG00000123560 HGNC:9086 RNASEH2A gene RNASEH2A Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, 610333 False 2 0;100;0 0.12 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, 610181 False 2 0;100;0 0.12 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, 610329 False 2 0;100;0 0.12 False ENSG00000172922 ENSG00000172922 HGNC:24116 SAMHD1 gene SAMHD1 Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952 False 2 0;100;0 0.12 False ENSG00000101347 ENSG00000101347 HGNC:15925 TAF1 gene TAF1 Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dystonia-Parkinsonism, X-linked, 314250;(NB complex mutation) False 2 0;100;0 0.12 False ENSG00000147133 ENSG00000147133 HGNC:11535 TIMM8A gene TIMM8A Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, 304700 False 2 0;100;0 0.12 False ENSG00000126953 ENSG00000126953 HGNC:11817 TPK1 gene TPK1 Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 False 2 0;100;0 0.12 False ENSG00000196511 ENSG00000196511 HGNC:17358 TREX1 gene TREX1 Expert Review Amber;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Vasculopathy, retinal, with cerebral leukodystrophy, 192315;Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 False 2 0;100;0 0.12 False ENSG00000213689 ENSG00000213689 HGNC:12269 AFG3L2 gene AFG3L2 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown Dystonia False 1 0;0;100 0.12 False ENSG00000141385 ENSG00000141385 HGNC:315 AIFM1 gene AIFM1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6 300816 False 1 0;0;100 0.12 False ENSG00000156709 ENSG00000156709 HGNC:8768 ATN1 gene ATN1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubro-pallidoluysian atrophy, 125370 False 1 0;0;100 0.12 False ENSG00000111676 ENSG00000111676 HGNC:3033 BDNF gene BDNF Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, 209880 False 1 0;0;100 0.12 False ENSG00000176697 ENSG00000176697 HGNC:1033 CIZ1 gene CIZ1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown Dystonia 23, 614860 False 1 0;0;100 0.12 False ENSG00000148337 ENSG00000148337 HGNC:16744 DCAF10 gene DCAF10 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 0.12 False ENSG00000122741 ENSG00000122741 HGNC:23686 DCTN1 gene DCTN1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type VIIB False 1 0;0;100 0.12 False ENSG00000204843 ENSG00000204843 HGNC:2711 DRD2 gene DRD2 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown Dystonia, myoclonic, 159900 False 1 0;0;100 0.12 False ENSG00000149295 ENSG00000149295 HGNC:3023 DRD5 gene DRD5 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown {Blepharospasm, primary benign}, 606798 False 1 0;0;100 0.12 False ENSG00000169676 ENSG00000169676 HGNC:3026 EARS2 gene EARS2 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924 False 1 0;0;100 0.12 False ENSG00000103356 ENSG00000103356 HGNC:29419 ERCC6 gene ERCC6 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown Dystonia False 1 0;0;100 0.12 False ENSG00000225830 ENSG00000225830 HGNC:3438 FASTKD2 gene FASTKD2 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown Dystonia False 1 0;0;100 0.12 False ENSG00000118246 ENSG00000118246 HGNC:29160 FOXRED1 gene FOXRED1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown Mitochondrial complex I deficiency, nuclear type 19, 618241 False 1 0;0;100 0.12 False ENSG00000110074 ENSG00000110074 HGNC:26927 GAMT gene GAMT Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2, 612736 False 1 0;0;100 0.12 False ENSG00000130005 ENSG00000130005 HGNC:4136 GFAP gene GFAP Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alexander disease, 203450 False 1 0;0;100 0.12 False ENSG00000131095 ENSG00000131095 HGNC:4235 HTT gene HTT Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Huntington disease, 143100 False 1 0;0;100 0.12 False ENSG00000197386 ENSG00000197386 HGNC:4851 KCNK18 gene KCNK18 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 False 1 0;0;100 0.12 False ENSG00000186795 ENSG00000186795 HGNC:19439 MAT1A gene MAT1A Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 False 1 0;0;100 0.12 False ENSG00000151224 ENSG00000151224 HGNC:6903 MCOLN1 gene MCOLN1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, 252650 False 1 0;0;100 0.12 False ENSG00000090674 ENSG00000090674 HGNC:13356 MMADHC gene MMADHC Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, cblD type, variant 2;Homocystinuria, cblD type, variant 1;Methylmalonic aciduria and homocystinuria, cblD type, 277410 False 1 0;0;100 0.12 False ENSG00000168288 ENSG00000168288 HGNC:25221 MPV17 gene MPV17 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 False 1 0;0;100 0.12 False ENSG00000115204 ENSG00000115204 HGNC:7224 MR1 gene MR1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH False 1 0;0;100 0.12 False ENSG00000153029 ENSG00000153029 HGNC:4975 NDUFA12 gene NDUFA12 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 23, 618244 False 1 0;0;100 0.12 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA2 gene NDUFA2 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13 False 1 0;0;100 0.12 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA9 gene NDUFA9 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, 618247 False 1 0;0;100 0.12 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFS3 gene NDUFS3 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8, 618230 False 1 0;0;100 0.12 False ENSG00000213619 ENSG00000213619 HGNC:7710 NUP62 gene NUP62 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile 271930 False 1 0;0;100 0.12 False ENSG00000213024 ENSG00000213024 HGNC:8066 PARK7 gene PARK7 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7, autosomal recessive early-onset False 1 0;0;100 0.12 False ENSG00000116288 ENSG00000116288 HGNC:16369 PDHX gene PDHX Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, 245349 False 1 0;0;100 0.12 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDX1 gene PDX1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 1 260370;MODY, type IV 606392 False 1 0;0;100 0.12 False ENSG00000139515 ENSG00000139515 HGNC:6107 PITX3 gene PITX3 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Disorders of Dopamine Synthesis Regulation False 1 0;0;100 0.12 False ENSG00000107859 ENSG00000107859 HGNC:9006 PNPT1 gene PNPT1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, 614932 False 1 0;0;100 0.12 False ENSG00000138035 ENSG00000138035 HGNC:23166 PSEN1 gene PSEN1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1U, 613694;Alzheimer disease, type 3, 607822;Pick disease, 172700;Dementia, frontotemporal 600274 False 1 0;0;100 0.12 False ENSG00000080815 ENSG00000080815 HGNC:9508 PTEN gene PTEN Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lhermitte-Duclos syndrome, 158350;Cowden syndrome 1, 158350;Macrocephaly/autism syndrome, 605309;VATER association with macrocephaly and ventriculomegaly, 276950 False 1 0;0;100 0.12 False ENSG00000171862 ENSG00000171862 HGNC:9588 SCN9A gene SCN9A Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, generalized, with febrile seizures plus, type 7, 613863;Congenital Indifference to Pain;Paroxysmal Extreme Pain Disorder;Dysosteosclerosis;Hereditary Sensory Neuropathy;Erythermalgia, Primary;Erythermalgia, primary, 133020;Febrile seizures, familial, 3B, 613863;Insensitivity to pain, channelopathy-associated, 243000;Paroxysmal extreme pain disorder, 167400 False 1 0;0;100 0.12 False ENSG00000169432 ENSG00000169432 HGNC:10597 SCP2 gene SCP2 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Unknown ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 False 1 0;0;100 0.12 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHAF1 gene SDHAF1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, 252011 False 1 0;0;100 0.12 False ENSG00000205138 ENSG00000205138 HGNC:33867 SLC46A1 gene SLC46A1 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, 229050 False 1 0;0;100 0.12 False ENSG00000076351 ENSG00000076351 HGNC:30521 TREM2 gene TREM2 Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH Alzheimers disease;Frontotemporal dementia;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 False 1 0;0;100 0.12 False ENSG00000095970 ENSG00000095970 HGNC:17761 VPS37A gene VPS37A Expert Review Red;South West GLH GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive, 614898 False 1 0;0;100 0.12 False ENSG00000155975 ENSG00000155975 HGNC:24928