Monogenic hearing loss
Gene: DFNA5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
added new-gene-name tag, new approved HGNC gene symbol is GSDMECreated: 4 Sep 2017, 1:11 p.m.
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.
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
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:09 p.m.
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
Phenotypes for DFNA5 were set to Nonsyndromic Hearing Loss, Mixed; #600994:Deafness, autosomal dominant 5; hearing loss
Publications for DFNA5 were set to PMID: 12461698; 14559215; 14676472; 15173223; 16897187; 17427029; 17868390; 19911014; 21522185; 8589696; 9450185; 9523727; 9771715
Mode of inheritance for DFNA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene DFNA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene DFNA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene DFNA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene DFNA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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