Ataxia - adult onset
Gene: CLCN2EnsemblGeneIds (GRCh38): ENSG00000114859
EnsemblGeneIds (GRCh37): ENSG00000114859
OMIM: 600570, Gene2Phenotype
CLCN2 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Association with hyperaldosteronism: 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.
Association with leukodystrophy: At least six families reported, three with adult onset and three with childhood onset.Created: 30 May 2021, 9:19 a.m. | Last Modified: 30 May 2021, 9:19 a.m.
Panel Version: 0.7719
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with ataxia, MIM# 615651; Hyperaldosteronism, familial, type II, MIM# 605635
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
- Leukoencephalopathy with ataxia, 615651
- {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
- {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
- OMIM
- 600570
- Clinvar variants
- Variants in CLCN2
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CLCN2 was added gene: CLCN2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CLCN2 were set to {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628