1. Panels
  2. Deafness_Isolated
  3. CLIC5
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_Isolated

Gene: CLIC5

Amber List (moderate evidence)
CLIC5 (chloride intracellular channel 5)
EnsemblGeneIds (GRCh38): ENSG00000112782
EnsemblGeneIds (GRCh37): ENSG00000112782
OMIM: 607293, Gene2Phenotype
CLIC5 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported to date but mouse model supports gene-disease association. Classified as MODERATE by ClinGen.
Created: 31 Dec 2019, 12:15 a.m. | Last Modified: 31 Dec 2019, 12:15 a.m.
Panel Version: 0.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 103, MIM# 616042

Publications

Created: 31 Dec 2019, 12:15 a.m.
Last Modified: 31 Dec 2019, 12:15 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 103, MIM# 616042
OMIM
607293
Clinvar variants
Variants in CLIC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clic5 has been classified as Amber List (Moderate Evidence).

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clic5 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLIC5 was added gene: CLIC5 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: CLIC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLIC5 were set to 24781754; 17021174 Phenotypes for gene: CLIC5 were set to Deafness, autosomal recessive 103, MIM# 616042