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
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