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  3. CLDN9
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Deafness_Isolated

Gene: CLDN9

Green List (high evidence)
CLDN9 (claudin 9)
EnsemblGeneIds (GRCh38): ENSG00000213937
EnsemblGeneIds (GRCh37): ENSG00000213937
OMIM: 615799, Gene2Phenotype
CLDN9 is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Two additional families with nonsynonymous homozygous variants with supporting functional assays (PMID: 34265170). Now three unrelated families with nonsyndromic deafness and a supporting null mouse model.
Created: 9 Aug 2021, 8:57 a.m. | Last Modified: 9 Aug 2021, 8:57 a.m.
Panel Version: 1.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 116, MIM#619093

Publications

Created: 9 Aug 2021, 8:57 a.m.
Last Modified: 9 Aug 2021, 8:57 a.m.
Panel version: 1.11

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family with multiple sibs reported; mouse model exhibits deafness.
Sources: Literature
Created: 31 Dec 2019, 4:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 116, MIM#619093

Publications

Created: 31 Dec 2019, 4:54 a.m.

Panel version: 1.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Deafness, autosomal recessive 116, MIM#619093
OMIM
615799
Clinvar variants
Variants in CLDN9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cldn9 has been classified as Green List (High Evidence).

13 Nov 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLDN9 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 116, MIM#619093

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn9 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: CLDN9 was added gene: CLDN9 was added to DeafnessIsolated. Sources: Expert Review Amber,Literature Mode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN9 were set to 31175426; 19696885 Phenotypes for gene: CLDN9 were set to Deafness, autosomal recessive