Gene Symbol:
CLCN2
HGNC:2020
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3q27.1
Filters:

Definitive classifications

leukoencephalopathy with mild cerebellar ataxia and white matter edema
Submitted as: OMIM:615651
AR
08/23/2017
Evaluated
09/11/2023
Submitted

Strong classifications

epilepsy, idiopathic generalized, susceptibility to, 11
Submitted as: OMIM:607628
AD
01/28/2021
Evaluated
03/31/2021
Submitted
leukoencephalopathy with mild cerebellar ataxia and white matter edema
Submitted as: OMIM:615651
AR
01/28/2021
Evaluated
03/31/2021
Submitted
leukoencephalopathy with mild cerebellar ataxia and white matter edema
Submitted as: OMIM:615651
AR
05/08/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

leukoencephalopathy with mild cerebellar ataxia and white matter edema
Submitted as: OMIM:615651
AR
02/12/2018
Evaluated
12/24/2020
Submitted
familial hyperaldosteronism type II
Submitted as: OMIM:605635
AD
02/12/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

familial hyperaldosteronism type II
Submitted as: Orphanet:404
AD
09/14/2021
Evaluated
09/14/2021
Submitted
leukoencephalopathy with mild cerebellar ataxia and white matter edema
Submitted as: Orphanet:363540
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Refuted Evidence classifications

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