Monogenic hearing loss
Gene: DIABLOComment on list classification: Changed rating from red to amber as there are now two cases of variants in this gene associated with hearing lossCreated: 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.Glu170ValCreated: 18 Feb 2019, 10:20 p.m.
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
single mutation reportedCreated: 13 Oct 2015, 8:31 p.m.
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.
Publications for gene: DIABLO were set to PMID: 10929711; 10929712; 10972280; 11140637; 11140638; 11242052; 11971981; 15557007; 15814844; 21722859
Mode of inheritance for gene: DIABLO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: diablo has been classified as Amber List (Moderate Evidence).
Gene: diablo has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for DIABLO were set to hearing loss; #614152:Deafness, autosomal dominant 64
Publications for DIABLO were set to PMID: 10929711; 10929712; 10972280; 11140637; 11140638; 11242052; 11971981; 15557007; 15814844; 21722859
Mode of inheritance for DIABLO was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
DIABLO was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
DIABLO was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
DIABLO was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
DIABLO was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert