Monogenic hearing loss
Gene: SERPINB6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:44 p.m.
Comment on list classification: It is a confirmed DD gene for deafness, autosomal recessive 91, and is a current diagnostic gene for a reviewer. Confirmed with this reviewer that SERPINB6 has at least 3 mutations in 2 families so far, and homozygous null mice have progressive hearing loss, therefore this should remain as a green gene.Created: 2 Mar 2016, 11:20 a.m.
Only 1 allele identified so far. No hearing loss observed in knockout mice.Created: 24 Feb 2016, 10:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#613453:?Deafness, autosomal recessive 91
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:18 p.m.
2 families reported.
Reasonable functional evidenceCreated: 13 Oct 2015, 8:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SERPINB6 were set to PMID: 25719458; 15082799; 20451170; PMID: 23669344 (homozygous-null mice have hearing impairmemt from 3 weeks of age, associated with progressive cellular degeneration within the cochlea); 24963352; 7601482; 7608171; 7724531; 8415716; 8530031; 8614560
Publications for SERPINB6 were set to PMID: 25719458; 15082799; 20451170; 23669344; 24963352; 7601482; 7608171; 7724531; 8415716; 8530031; 8614560
This gene has been classified as Amber List (Moderate Evidence).
Publications for SERPINB6 were set to PMID:15082799; 20451170; 23669344; 24963352; 7601482; 7608171; 7724531; 8415716; 8530031; 8614560
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SERPINB6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SERPINB6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
SERPINB6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
SERPINB6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
SERPINB6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert