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  2. Deafness_Isolated
  3. DIABLO
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Deafness_Isolated

Gene: DIABLO

Amber List (moderate evidence)
DIABLO (diablo IAP-binding mitochondrial protein)
EnsemblGeneIds (GRCh38): ENSG00000184047
EnsemblGeneIds (GRCh37): ENSG00000184047
OMIM: 605219, Gene2Phenotype
DIABLO is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Additional publication identified, promoted to Amber.
Created: 2 Jan 2020, 3:57 a.m. | Last Modified: 2 Jan 2020, 3:57 a.m.
Panel Version: 0.190
Created: 2 Jan 2020, 3:57 a.m.
Last Modified: 2 Jan 2020, 3:57 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.190

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

Single large chinese family, missense variant, segregated with disease.
Created: 31 Dec 2019, 12:35 a.m. | Last Modified: 31 Dec 2019, 12:35 a.m.
Panel Version: 0.48

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant hearing loss

Publications

Mode of pathogenicity
Other

Created: 31 Dec 2019, 12:35 a.m.
Last Modified: 31 Dec 2019, 12:35 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 64, MIM# 614152
OMIM
605219
Clinvar variants
Variants in DIABLO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DIABLO was added gene: DIABLO was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: DIABLO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DIABLO were set to 10929711; 21722859; 26969326 Phenotypes for gene: DIABLO were set to Deafness, autosomal dominant 64, MIM# 614152