Deafness and congenital structural abnormalities
Gene: SLC26A4EnsemblGeneIds (GRCh38): ENSG00000091137
EnsemblGeneIds (GRCh37): ENSG00000091137
OMIM: 605646, Gene2Phenotype
SLC26A4 is in 4 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Multiple cases/family reports for this variant and Deafness, autosomal recessive 4,with enlarged vestibular aqueduct, 600791 and is a green gene on the congenital hearing panel.Created: 14 Oct 2016, 12:48 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Deafness,autosomal recessive 4,with enlarged vestibular aqueduct,600791
- OMIM
- 605646
- Clinvar variants
- Variants in SLC26A4
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SLC26A4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)SLC26A4 was added to Deafness and congenital structural abnormalitiespanel. Sources: Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,Expert Review Amber
Created
Sarah Leigh (Genomics England Curator)SLC26A4 was created by sleigh