Monogenic hearing loss
Gene: SERPINB6EnsemblGeneIds (GRCh38): ENSG00000124570
EnsemblGeneIds (GRCh37): ENSG00000124570
OMIM: 173321, Gene2Phenotype
SERPINB6 is in 1 panel
5 reviews
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
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.
Jun Shen (Harvard Medical School)
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
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:18 p.m.
Maria Bitner-Glindzicz (UCL)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- hearing loss
- Deafness, autosomal recessive 91, 613453
- OMIM
- 173321
- Clinvar variants
- Variants in SERPINB6
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SERPINB6 were set to PMID: 25719458; 15082799; 20451170; 23669344; 24963352; 7601482; 7608171; 7724531; 8415716; 8530031; 8614560
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SERPINB6 were set to PMID:15082799; 20451170; 23669344; 24963352; 7601482; 7608171; 7724531; 8415716; 8530031; 8614560
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
Damian Smedley (Genomics England Curator)Mode of inheritance for SERPINB6 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SERPINB6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)SERPINB6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)SERPINB6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)SERPINB6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert