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Intellectual disability - microarray and sequencing v3.1367 CLCN2 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI has been changed from 'Both mono- and biallelic' to 'Biallelic' only. Mild cognitive impairment has been reported in some patients with CLCN2-related Leukoencephalopathy (MIM# 615651) which is caused by biallelic variants. Autosomal dominant pathogenic variants are also associated with hyperaldosteronism (MIM# 605635) and susceptibility to idiopathic epilepsy (MIM# 607628) but neither of these phenotypes include ID. There is also controversy regarding any link between CLCN2 and epilepsy.
Intellectual disability - microarray and sequencing v3.1367 CLCN2 Arina Puzriakova Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1366 CLCN2 Arina Puzriakova Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 to Leukoencephalopathy with ataxia, OMIM:615651
Intellectual disability - microarray and sequencing v3.1365 CLCN2 Arina Puzriakova Publications for gene: CLCN2 were set to 23707145; 19191339
Intellectual disability - microarray and sequencing CLCN2 BRIDGE consortium edited their review of CLCN2
Intellectual disability - microarray and sequencing CLCN2 BRIDGE consortium edited their review of CLCN2
Intellectual disability - microarray and sequencing CLCN2 Louise Daugherty classified CLCN2 as amber
Intellectual disability - microarray and sequencing CLCN2 Louise Daugherty commented on CLCN2
Intellectual disability - microarray and sequencing CLCN2 BRIDGE consortium reviewed CLCN2