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  3. DIAPH3
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Auditory Neuropathy

Gene: DIAPH3

Amber List (moderate evidence)
DIAPH3 (diaphanous related formin 3)
EnsemblGeneIds (GRCh38): ENSG00000139734
EnsemblGeneIds (GRCh37): ENSG00000139734
OMIM: 614567, Gene2Phenotype
DIAPH3 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Comment when marking as ready: Additional family identified (PMID 27658576), promoted to Amber. Same variant.
Created: 2 Jan 2020, 4 a.m. | Last Modified: 2 Jan 2020, 4 a.m.
Panel Version: 0.192
Single family reported, note variant is (-172G-A) in the 5-prime untranslated region. Mouse model is homozygous lethal, though transgenic mouse model supports pathogenicity.
Created: 31 Dec 2019, 12:34 a.m. | Last Modified: 31 Dec 2019, 12:34 a.m.
Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Auditory neuropathy, autosomal dominant, 1, MIM#609129

Publications

Created: 31 Dec 2019, 12:34 a.m.
Last Modified: 31 Dec 2019, 12:34 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.45

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Auditory neuropathy, autosomal dominant, 1 MIM#609129
  • non-syndromic auditory neuropathy spectrum disorder
OMIM
614567
Clinvar variants
Variants in DIAPH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DIAPH3 was added gene: DIAPH3 was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: DIAPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DIAPH3 were set to 21176974 Phenotypes for gene: DIAPH3 were set to Auditory neuropathy, autosomal dominant, 1 MIM#609129; non-syndromic auditory neuropathy spectrum disorder