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Intellectual disability

Gene: CLCN4

Green List (high evidence)

CLCN4 (chloride voltage-gated channel 4)
EnsemblGeneIds (GRCh38): ENSG00000073464
EnsemblGeneIds (GRCh37): ENSG00000073464
OMIM: 302910, Gene2Phenotype
CLCN4 is in 3 panels

5 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.

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.

Caroline Wright (Sanger)

Red List (low evidence)

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

Phenotypes
INFANTILE EPILEPTIC ENCEPHALOPATHY

Publications

Ellen Thomas (Genomics England Curator)

Comment on list classification: New paper published 2016 - see PMID below - review when next version considered.
Created: 27 Jan 2017, 3:15 p.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

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
  • Expert Review Red
Phenotypes
  • Mental retardation, X-linked 49-15 300114
Tags
watchlist
OMIM
302910
Clinvar variants
Variants in CLCN4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to CLCN4. Panel: Intellectual disability Publications for gene CLCN4 was set to ['25644381']

27 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jan 2017, Gel status: 1

Set publications

Ellen Thomas (Genomics England Curator)

Publications for CLCN4 were set to 23647072; 25644381

27 Jan 2017, Gel status: 1

Set publications

Ellen Thomas (Genomics England Curator)

Publications for CLCN4 were set to 23647072; 25644381

27 Jan 2017, Gel status: 1

Set publications

Ellen Thomas (Genomics England Curator)

Publications for CLCN4 were set to 23647072; 25644381

27 Jan 2017, Gel status: 1

Set publications

Ellen Thomas (Genomics England Curator)

Publications for CLCN4 were set to 23647072; 25644381

27 Jan 2017, Gel status: 1

Set publications

Ellen Thomas (Genomics England Curator)

Publications for CLCN4 were set to 23647072; 25644381

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CLCN4 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CLCN4 was added to Intellectual disabilitypanel. Sources: Expert Review Red