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Deafness_IsolatedAndComplex
Gene: CLIC5

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: 0.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal recessive 103, MIM# 616042

OMIM

Clinvar variants

Variants in CLIC5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

31 Dec 2019, 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).

31 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Deafness, autosomal recessive 103, MIM# 616042

31 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Deafness, autosomal recessive 103, MIM# 616042

31 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLIC5 were changed from to Deafness, autosomal recessive 103, MIM# 616042

31 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLIC5 were set to 24781754; 17021174

31 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLIC5 were set to

31 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CLIC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

31 Dec 2019, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLIC5 was added gene: CLIC5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: CLIC5 was set to Unknown