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Hearing loss

Gene: DIABLO

Amber List (moderate evidence)

DIABLO (diablo IAP-binding mitochondrial protein)
EnsemblGeneIds (GRCh38): ENSG00000184047
EnsemblGeneIds (GRCh37): ENSG00000184047
OMIM: 605219, Gene2Phenotype
DIABLO is in 2 panels

5 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating from red to amber as there are now two cases of variants in this gene associated with hearing loss
Created: 18 Feb 2019, 10:22 p.m.
Associated with Deafness, autosomal dominant 64 (614152) in OMIM.

PMID: 21722859 - Cheng et al 2011 - report a DIABLO missense mutation that underlies autosomal-dominant hearing loss, designated as DFNA64, in a six-generation Chinese kindred. Functional studies showed ( RT-PCR) that DIABLO is expressed in the inner ear, and in mouse Diablo was significantly upregulated in hair cells from E18.5 to P0 and was subsequently downregulated. Expression of DIABLO S71L in transfected HeLa cells leads to degradation of both the mutant and endogenous DIABLO through heterodimerization between them.

PMID: 26969326 - Sloan-Heggen et al 2016 - report a patient with a heterozygous missense variant. NM_001278342:c.509A>T, p.Glu170Val
Created: 18 Feb 2019, 10:20 p.m.

Emma Ashton (Great Ormond Street Hospital)

I don't know

2 missense variants DM on HGMD. Cheng et al 2011 PMID 21722859; Sloan-Heggen et al 2016 PMID 26969326
Created: 17 Feb 2019, 4:35 p.m.

Publications

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#614152:Deafness, autosomal dominant 64[Hearing loss, sensorineuralHigh-frequency tinnitus at onsetFlat audiogram]

Publications

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

single mutation reported
Created: 13 Oct 2015, 8:31 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Not on the imprinted gene list.
Created: 17 Feb 2016, 1:10 p.m.
Comment on list classification: Demoted from green to red due to expert review, and only one family study reported to date.
Created: 17 Feb 2016, 1:09 p.m.
Was referred to as 'SMAC' by an expert list. HGNC-approved symbol is 'DIABLO'.
Created: 24 Jun 2015, 2:30 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • #614152:Deafness, autosomal dominant 64
OMIM
605219
Clinvar variants
Variants in DIABLO
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DIABLO were set to PMID: 10929711; 10929712; 10972280; 11140637; 11140638; 11242052; 11971981; 15557007; 15814844; 21722859

18 Feb 2019, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: DIABLO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

18 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

17 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for DIABLO were set to hearing loss; #614152:Deafness, autosomal dominant 64

17 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DIABLO were set to PMID: 10929711; 10929712; 10972280; 11140637; 11140638; 11242052; 11971981; 15557007; 15814844; 21722859

17 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for DIABLO was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DIABLO was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DIABLO was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DIABLO was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DIABLO was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert