Monogenic hearing loss
Gene: DFNA5EnsemblGeneIds (GRCh38): ENSG00000105928
EnsemblGeneIds (GRCh37): ENSG00000105928
OMIM: 608798, Gene2Phenotype
DFNA5 is in 1 panel
6 reviews
Lampros Mavrogiannis (Leeds Genetics Laboratory)
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 GSDMECreated: 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 confirmedCreated: 29 Jan 2016, 3:09 p.m.
Maria Bitner-Glindzicz (UCL)
All mutations appear to cause skipping of exon 8Created: 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
- OMIM
- 608798
- Clinvar variants
- Variants in DFNA5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DFNA5 were set to Nonsyndromic Hearing Loss, Mixed; #600994:Deafness, autosomal dominant 5; hearing loss
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DFNA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
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
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
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
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
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
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
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