GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH (Version 0.12)

This Panel is marked as Deleted

Description

INTERNAL PANEL ONLY- to use in data analysis

Panel Activity

1 reviewer

Emily Jones (North Bristol NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab

63 Entities

63 reviewed, 4 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 63 Entitiess
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green South West GLH Phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 Tags
Green Green List (high evidence)	GNAL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH Phenotypes Dystonia 25, 615073 Tags
Green Green List (high evidence)	NKX2-1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH Phenotypes Chorea, hereditary benign 118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Tags
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH Phenotypes Sulfite oxidase deficiency, 272300 Tags
Amber Amber List (moderate evidence)	ARSA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes Metachromatic leukodystrophy, 250100 Tags
Amber Amber List (moderate evidence)	ARX	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber South West GLH Phenotypes Partington Syndrome, 300382 Tags
Amber Amber List (moderate evidence)	AUH	1 review	Unknown	Sources Expert Review Amber South West GLH Phenotypes 3-methylglutaconic aciduria, type I, 250950 Tags
Amber Amber List (moderate evidence)	CYP27A1	1 review	Unknown	Sources Expert Review Amber South West GLH Phenotypes Cerebrotendinous xanthomatosis, CTX, 213700 Tags
Amber Amber List (moderate evidence)	FOXG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber South West GLH Phenotypes Rett Syndrome, congenital variant, 613454 Tags
Amber Amber List (moderate evidence)	HEXA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes GM2-gangliosidosis, several forms 272800 [Hex A pseudodeficiency] 272800 AR Tay-Sachs disease 272800 Tags
Amber Amber List (moderate evidence)	HPRT1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber South West GLH Phenotypes Lesch-Nyhan syndrome, 300322 Tags
Amber Amber List (moderate evidence)	L2HGDH	1 review	Unknown	Sources Expert Review Amber South West GLH Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Amber Amber List (moderate evidence)	NPC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes Niemann-pick disease, type C2, 607625 Tags
Amber Amber List (moderate evidence)	PCDH12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280 microcephaly epilepsy midbrain abnormalities perithalamic hyperechogenicity hypothalamic abnormalities intellectual disability Tags
Amber Amber List (moderate evidence)	PLP1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber South West GLH Phenotypes Pelizaeus-Merzbacher disease, 312080 Spastic paraplegia 2, X-linked, 312920 Tags
Amber Amber List (moderate evidence)	RNASEH2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes Aicardi-Goutieres syndrome 4, 610333 Tags
Amber Amber List (moderate evidence)	RNASEH2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes Aicardi-Goutieres syndrome 2, 610181 Tags
Amber Amber List (moderate evidence)	RNASEH2C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes Aicardi-Goutieres syndrome 3, 610329 Tags
Amber Amber List (moderate evidence)	SAMHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes Aicardi-Goutieres syndrome 5, 612952 Tags
Amber Amber List (moderate evidence)	TAF1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber South West GLH Phenotypes Dystonia-Parkinsonism, X-linked, 314250 (NB complex mutation) Tags
Amber Amber List (moderate evidence)	TIMM8A	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber South West GLH Phenotypes Mohr-Tranebjaerg syndrome, 304700 Tags
Amber Amber List (moderate evidence)	TPK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 Tags
Amber Amber List (moderate evidence)	TREX1	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH Phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 Tags
Red Red List (low evidence)	AFG3L2	1 review 1 red	Unknown	Sources Expert Review Red South West GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	AIFM1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red South West GLH Phenotypes Combined oxidative phosphorylation deficiency 6 300816 Tags
Red Red List (low evidence)	ATN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH Phenotypes Dentatorubro-pallidoluysian atrophy, 125370 Tags
Red Red List (low evidence)	BDNF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH Phenotypes Central hypoventilation syndrome, congenital, 209880 Tags
Red Red List (low evidence)	CIZ1	1 review 1 red	Unknown	Sources Expert Review Red South West GLH Phenotypes Dystonia 23, 614860 Tags
Red Red List (low evidence)	DCAF10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Tags
Red Red List (low evidence)	DCTN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red South West GLH Phenotypes Neuropathy, distal hereditary motor, type VIIB Tags
Red Red List (low evidence)	DRD2	1 review 1 red	Unknown	Sources Expert Review Red South West GLH Phenotypes Dystonia, myoclonic, 159900 Tags
Red Red List (low evidence)	DRD5	1 review 1 red	Unknown	Sources Expert Review Red South West GLH Phenotypes {Blepharospasm, primary benign}, 606798 Tags
Red Red List (low evidence)	EARS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Tags
Red Red List (low evidence)	ERCC6	1 review 1 red	Unknown	Sources Expert Review Red South West GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	FASTKD2	1 review 1 red	Unknown	Sources Expert Review Red South West GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	FOXRED1	1 review 1 red	Unknown	Sources Expert Review Red South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 Tags
Red Red List (low evidence)	GAMT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Cerebral creatine deficiency syndrome 2, 612736 Tags
Red Red List (low evidence)	GFAP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red South West GLH Phenotypes Alexander disease, 203450 Tags
Red Red List (low evidence)	HTT	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red South West GLH Phenotypes Huntington disease, 143100 Tags
Red Red List (low evidence)	KCNK18	1 review 1 red	Unknown	Sources Expert Review Red South West GLH Phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 Tags
Red Red List (low evidence)	MAT1A	1 review 1 red	Unknown	Sources Expert Review Red South West GLH Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 Tags
Red Red List (low evidence)	MCOLN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Mucolipidosis IV, 252650 Tags
Red Red List (low evidence)	MMADHC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Methylmalonic aciduria, cblD type, variant 2 Homocystinuria, cblD type, variant 1 Methylmalonic aciduria and homocystinuria, cblD type, 277410 Tags
Red Red List (low evidence)	MPV17	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Tags
Red Red List (low evidence)	MR1	1 review 1 red	Not set	Sources Expert Review Red South West GLH Tags
Red Red List (low evidence)	NDUFA12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes ?Mitochondrial complex I deficiency, nuclear type 23, 618244 Tags
Red Red List (low evidence)	NDUFA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 13 Tags
Red Red List (low evidence)	NDUFA9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 Tags
Red Red List (low evidence)	NDUFS3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 Tags
Red Red List (low evidence)	NUP62	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Striatonigral degeneration, infantile 271930 Tags
Red Red List (low evidence)	PARK7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Parkinson disease 7, autosomal recessive early-onset Tags
Red Red List (low evidence)	PDHX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Lacticacidemia due to PDX1 deficiency, 245349 Tags
Red Red List (low evidence)	PDX1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Pancreatic agenesis 1 260370 MODY, type IV 606392 Tags
Red Red List (low evidence)	PITX3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red South West GLH Phenotypes Disorders of Dopamine Synthesis Regulation Tags
Red Red List (low evidence)	PNPT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Combined oxidative phosphorylation deficiency 13, 614932 Tags
Red Red List (low evidence)	PSEN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Cardiomyopathy, dilated, 1U, 613694 Alzheimer disease, type 3, 607822 Pick disease, 172700 Dementia, frontotemporal 600274 Tags
Red Red List (low evidence)	PTEN	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Lhermitte-Duclos syndrome, 158350 Cowden syndrome 1, 158350 Macrocephaly/autism syndrome, 605309 VATER association with macrocephaly and ventriculomegaly, 276950 Tags
Red Red List (low evidence)	SCN9A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes 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 Tags
Red Red List (low evidence)	SCP2	1 review 1 red	Unknown	Sources Expert Review Red South West GLH Phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 Tags
Red Red List (low evidence)	SDHAF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Mitochondrial complex II deficiency, 252011 Tags
Red Red List (low evidence)	SLC46A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Folate malabsorption, hereditary, 229050 Tags
Red Red List (low evidence)	TREM2	1 review 1 red	Not set	Sources Expert Review Red South West GLH Phenotypes Alzheimers disease Frontotemporal dementia Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 Tags
Red Red List (low evidence)	VPS37A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH Phenotypes Spastic paraplegia 53, autosomal recessive, 614898 Tags

GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH (Version 0.12)

1 reviewer

63 Entities

63 reviewed, 4 green

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