Renal Tubulopathies and related disorders
Gene: CLCN2
CLCN2 (chloride voltage-gated channel 2)
EnsemblGeneIds (GRCh38): ENSG00000114859
EnsemblGeneIds (GRCh37): ENSG00000114859
OMIM: 600570, Gene2Phenotype
CLCN2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000114859
EnsemblGeneIds (GRCh37): ENSG00000114859
OMIM: 600570, Gene2Phenotype
CLCN2 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.
At least 6 unrelated families reported.
Note bi-allelic variants cause a different phenotype.Created: 30 May 2021, 9:13 a.m. | Last Modified: 30 May 2021, 9:14 a.m.
Panel Version: 0.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperaldosteronism, familial, type II 605635
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 600570
- Clinvar variants
- Variants in CLCN2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Leukodystrophy - paediatric
- Prepair 1000+
- Ataxia - adult onset
- Mendeliome
- Syndromic Retinopathy
- Renal Tubulopathies and related disorders
- Intellectual disability syndromic and non-syndromic
- Hypertension and Aldosterone disorders
- Genetic Epilepsy
History Filter Activity
1 Dec 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CLCN2 was added gene: CLCN2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: CLCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLCN2 were set to 29403012; 29403011 Phenotypes for gene: CLCN2 were set to Hyperaldosteronism, familial, type II 605635