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Intellectual disability

Gene: CLCN5

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

3 reviews

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: Imported from Intellectual disability update Jan 2018 panel version 0.187

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)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:15 a.m.

Panel version: 0.306

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 Red
Phenotypes
  • Dent disease
OMIM
300008
Clinvar variants
Variants in CLCN5
Penetrance
Complete
Publications
  • 308990
Panels with this gene

History Filter Activity

16 Jun 2025, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: CLCN5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

12 Mar 2018, Gel status: 1

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: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CLCN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene CLCN5 was set to ['308990']

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

Added New Source

Ellen McDonagh (Genomics England Curator)

CLCN5 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CLCN5 was created by ellenmcdonagh