Deafness_Isolated
Gene: SLC26A5

SLC26A5 (solute carrier family 26 member 5)
EnsemblGeneIds (GRCh38): ENSG00000170615
EnsemblGeneIds (GRCh37): ENSG00000170615
OMIM: 604943, Gene2Phenotype
SLC26A5 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.

This gene-disease association is supported by mouse models, biochemical function studies and expression studies (12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209).

Classified as LIMITED by ClinGen in 2017.
Created: 2 Jan 2020, 5:25 a.m. | Last Modified: 15 Dec 2021, 3 a.m.

Panel Version: 1.17

Single family with compound het variants in this gene in a pair of sibs reported. Note an intronic variant in this gene previously implicated in deafness has been reclassified as likely benign due to high pop frequency (PMID:12719379).
Sources: Expert list
Created: 2 Jan 2020, 2:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 61, MIM# 613865

Publications

Created: 2 Jan 2020, 2:30 a.m.
Last Modified: 15 Dec 2021, 3 a.m.
Panel version: 1.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Expert list
Expert list

Phenotypes

Deafness, autosomal recessive 61, MIM# 613865

OMIM

604943

Clinvar variants

Variants in SLC26A5

Penetrance

None

Publications

Panels with this gene