Deafness_Isolated
Gene: DIAPH1

DIAPH1 (diaphanous related formin 1)
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 14 panels

1 review

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 24781755 (2016) - Two unrelated pedigrees with a heterozygous truncating (confirmed) variant in 4 and 3 individuals in each family with macrothrombocytopenia and sensorineural hearing loss. Gain of function is the suspected mechanism.

PMID: 27707755 (2016) - Heterozygous nonsense variant in two families with hearing loss.

PMID: 27808407 (2017) - Two families with different heterozygous truncating variants with ADNSHL. An association with thrombocytopenia was also identified.

PMID: 28003573 (2017) - Novel missense variant in a patient with ADNSHL.

PMID: 28815995 (2017) - Heterozygous nonsense variant in a family with progressive hearing loss and macrothrombocytopenia

Summary (deafness): at least eight families with AD deafness and in some cases macrothrombocytopenia
Created: 2 Sep 2020, 7:12 a.m. | Last Modified: 2 Sep 2020, 7:12 a.m.

Panel Version: 0.383

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 1, with or without thrombocytopenia 124900

Publications

Mode of pathogenicity
Other

Created: 2 Sep 2020, 7:12 a.m.
Last Modified: 2 Sep 2020, 7:12 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.383

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship

Phenotypes

Deafness, autosomal dominant 1, with or without thrombocytopenia 124900

OMIM

602121

Clinvar variants

Variants in DIAPH1

Penetrance

None

Publications

Panels with this gene