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Hearing loss

Gene: SERPINB6

Green List (high evidence)

SERPINB6 (serpin family B member 6)
EnsemblGeneIds (GRCh38): ENSG00000124570
EnsemblGeneIds (GRCh37): ENSG00000124570
OMIM: 173321, Gene2Phenotype
SERPINB6 is in 1 panel

5 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

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)

Red List (low evidence)

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 confirmed
Created: 29 Jan 2016, 4:18 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

2 families reported.
Reasonable functional evidence
Created: 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

2 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2016, Gel status: 2

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

2 Mar 2016, Gel status: 2

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

1 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SERPINB6 were set to PMID:15082799; 20451170; 23669344; 24963352; 7601482; 7608171; 7724531; 8415716; 8530031; 8614560

22 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for SERPINB6 was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 3

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

24 Jun 2015, Gel status: 3

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

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 1

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