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Hearing loss

Gene: DFNA5

Green List (high evidence)

DFNA5 (gasdermin E)
EnsemblGeneIds (GRCh38): ENSG00000105928
EnsemblGeneIds (GRCh37): ENSG00000105928
OMIM: 608798, Gene2Phenotype
DFNA5 is in 1 panel

6 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Louise Daugherty (Genomics England Curator)

added new-gene-name tag, new approved HGNC gene symbol is GSDME
Created: 4 Sep 2017, 1:11 p.m.

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 11 Oct 2018, 1:43 p.m.
Comment on mode of inheritance: Confirmed in G2P and OMIM. Not on the imprinted gene list.
Created: 17 Feb 2016, 1:03 p.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#600994:Deafness, autosomal dominant 5[Hearing loss, sensorineural, progressive (high frequencies first affected, all frequencies later affected)]

Publications

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:09 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

All mutations appear to cause skipping of exon 8
Created: 30 Sep 2015, 1:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Nonsyndromic Hearing Loss, Mixed
  • #600994:Deafness, autosomal dominant 5
  • hearing loss
Tags
new-gene-name
OMIM
608798
Clinvar variants
Variants in DFNA5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for DFNA5 were set to Nonsyndromic Hearing Loss, Mixed; #600994:Deafness, autosomal dominant 5; hearing loss

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DFNA5 were set to PMID: 12461698; 14559215; 14676472; 15173223; 16897187; 17427029; 17868390; 19911014; 21522185; 8589696; 9450185; 9523727; 9771715

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for DFNA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

DFNA5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

DFNA5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DFNA5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DFNA5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DFNA5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert