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Mendeliome

Gene: DIABLO

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single large chinese family, missense variant, segregated with disease.
Created: 31 Dec 2019, 3:28 a.m. | Last Modified: 31 Dec 2019, 3:28 a.m.
Panel Version: 0.490

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 64, MIM# 614152

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • 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

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: diablo 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: DIABLO were changed from to Deafness, autosomal dominant 64, MIM# 614152

31 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DIABLO 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: DIABLO 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: diablo 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: DIABLO was added gene: DIABLO was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DIABLO was set to Unknown