Intellectual disability update Jan 2018
Gene: CLCN5

CLCN5 (chloride voltage-gated channel 5)
EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

ID not associated with the phenotypes listed in OMIM for this gene. No phenotypes listed in G2P
Created: 28 Feb 2018, 3:18 p.m.

Comment on phenotypes: None of these phenotypes include features relevant to the id panel
Created: 28 Feb 2018, 3:15 p.m.

Created: 28 Feb 2018, 2:04 p.m.

Panel version: 0.187

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Dent disease 300009
Hypophosphatemic rickets 300554
Nephrolithiasis, type I 310468
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990

OMIM

300008

Clinvar variants

Variants in CLCN5

Penetrance

None

Panels with this gene

History Filter Activity

28 Feb 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CLCN5 were set to Dent disease 300009; Hypophosphatemic rickets 300554; Nephrolithiasis, type I 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990

28 Feb 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CLCN5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CLCN5 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created