CLCN2

chloride voltage-gated channel 2
OMIM: 600570, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green CLCN2 in Mendeliome Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with ataxia, MIM# 615651 Hyperaldosteronism, familial, type II, MIM# 605635
Green CLCN2 in Hypertension and Aldosterone disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Hyperaldosteronism, familial, type II 605635
Red CLCN2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Tags refuted
Green CLCN2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber CLCN2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Leukoencephalopathy with ataxia, MIM#615651
Green CLCN2 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with ataxia, MIM# 615651
Green CLCN2 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with ataxia, MIM# 615651
Green CLCN2 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with ataxia MIM# 615651
Green CLCN2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with ataxia, 615651 (3)
Green CLCN2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with ataxia MIM#615651 leukoencephalopathy with mild cerebellar ataxia and white matter oedema MONDO:0014292
Green CLCN2 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Hyperaldosteronism, familial, type II 605635