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Deafness_IsolatedAndComplex

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

Details

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

History Filter Activity

2 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DIAPH3 were set to 23441200; 20624953

2 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: diaph3 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DIAPH3 were changed from Auditory neuropathy, autosomal dominant, 1, MIM#609129 to Auditory neuropathy, autosomal dominant, 1, MIM#609129

31 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DIAPH3 were changed from to Auditory neuropathy, autosomal dominant, 1, MIM#609129

31 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DIAPH3 were set to

31 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DIAPH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: diaph3 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DIAPH3 was added gene: DIAPH3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: DIAPH3 was set to Unknown