CLCN2

chloride voltage-gated channel 2
OMIM: 600570, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CLCN2 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukoencephalopathy with ataxia, OMIM:615651
Green CLCN2 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Leukoencephalopathy with ataxia, OMIM:615651
Green CLCN2 in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy with ataxia, OMIM:615651
Green CLCN2 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy with ataxia, OMIM:615651
Green CLCN2 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with ataxia, OMIM:615651
Green CLCN2 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Leukoencephalopathy with ataxia, OMIM:615651
Red CLCN2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red NIHRBR-RD Consortium SPEED_v3.0_20170404 Literature Literature Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628 {Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628
Amber CLCN2 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leukoencephalopathy with ataxia, OMIM:615651
Green CLCN2 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukoencephalopathy with ataxia, OMIM:615651
Red CLCN2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH