Intellectual disability update Jan 2018
Gene: CLCN4

CLCN4 (chloride voltage-gated channel 4)
EnsemblGeneIds (GRCh38): ENSG00000073464
EnsemblGeneIds (GRCh37): ENSG00000073464
OMIM: 302910, Gene2Phenotype
CLCN4 is in 4 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, relevant phenotype
Created: 5 Mar 2018, 11:32 a.m.

Comment on mode of inheritance: PMID: 27550844; 2/18 women with inherited variants had moderate ID. 5/5 women with de novo variants noted to have ID. Therefore MOI altered to reflect monoallelic in women may cause disease.
Created: 5 Mar 2018, 11:31 a.m.

Created: 5 Mar 2018, 11:31 a.m.

Panel version: 0.292

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a possible G2P. At least 6 hemizygous variants reported in at least 6 unrelated male cases.
Created: 28 Feb 2018, 1:59 p.m.

Created: 28 Feb 2018, 1:59 p.m.

Panel version: 0.179

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green

Phenotypes

Mental retardation, X-linked 49/15 300114

OMIM

302910

Clinvar variants

Variants in CLCN4

Penetrance

None

Publications

25644381

Panels with this gene

History Filter Activity

14 Mar 2018, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for CLCN4 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

14 Mar 2018, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for CLCN4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Mar 2018, Gel status: 3