Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: CLCN4

Amber List (moderate evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Updated rating from Red to Amber to reflect change in DD-G2P Disease confidence for INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY (was 'possible', now 'probable').
Created: 19 Apr 2019, 2:32 p.m.
Comment on mode of inheritance: Changed MOI from monoallelic to hemizygous to match new Allelic requirement in DD-G2P for the disorder INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY. The hemizygous MOI is consistent with CLCN4 on other PanelApp panels.
Created: 19 Apr 2019, 2:30 p.m.
Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.

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
Phenotypes
  • INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY
OMIM
302910
Clinvar variants
Variants in CLCN4
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

19 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: clcn4 has been classified as Amber List (Moderate Evidence).

19 Apr 2019, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: CLCN4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: CLCN4 was added gene: CLCN4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CLCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN4 were set to 23647072; 25644381 Phenotypes for gene: CLCN4 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY Mode of pathogenicity for gene: CLCN4 was set to Other - please provide details in the comments