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  3. DIAPH3
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Auditory Neuropathy Spectrum Disorde

Gene: DIAPH3

Amber List (moderate evidence)
DIAPH3 (diaphanous related formin 3)
EnsemblGeneIds (GRCh38): ENSG00000139734
EnsemblGeneIds (GRCh37): ENSG00000139734
OMIM: 614567, Gene2Phenotype
DIAPH3 is in 2 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: 2 cases reported so changing rating from red to amber
Created: 17 Feb 2019, 11:28 p.m.
Associated with Auditory neuropathy, autosomal dominant, 1 (609129) in OMIM.

PMID: 20624953 - Schoen et al. (2010) - Identified a heterozygous mutation (-172G-A) in the 5-prime untranslated region of the DIAPH3 gene in a large family (33 affected members) with autosomal dominant auditory neuropathy-1. Some individuals are homozygous for the variant. Using genome-wide expression arrays and quantitative RT-PCR, they demonstrate a 2- to 3-fold overexpression of DIAPH3 mRNA in lymphoblastoid cell lines from affected individuals.

PMID: 27658576 - Martinez et al 2017 - 3 family members with progressive bilateral deafness from the age of 20 years. A c.-173C>T variant, located in the regulatory region of DIAPH3 was found in affected family members, but not in 2 unaffected family members.
Created: 17 Feb 2019, 11:28 p.m.
Created: 17 Feb 2019, 11:28 p.m.

Panel version: 1.5

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Richard Scott (Genomics England Curator)

Comment when marking as ready: Agree with review
Created: 10 May 2016, 8:57 p.m.
Created: 10 May 2016, 8:57 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Auditory neuropathy, autosomal dominant, 1, 609129
OMIM
614567
Clinvar variants
Variants in DIAPH3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2019, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DIAPH3 were set to

17 Feb 2019, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: DIAPH3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: diaph3 has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

DIAPH3 was added to Auditory Neuropathy Spectrum Disorder panel. Sources: Radboud University Medical Center, Nijmegen