Hearing lossGene: HOMER2
Comment on list classification: Promoting from grey to amber. Two families with monoallelic variants, and a mouse with biallelic variants and deafness. Heterozygous mice did not show hearing loss so promoting to amber not green just now. Genomics England clinical team support this rating.
Created: 1 Jul 2020, 4:41 p.m. | Last Modified: 1 Jul 2020, 4:41 p.m.
Panel Version: 2.32
Provisional association with ?Deafness, autosomal dominant 68 #616707 (AD) in OMIM.
2 families reported:
PMID: 25816005 - Azaiez et al 2015 - one family with post-lingual progressive autosomal dominant non-syndromic hearing loss and a missense variant p.Arg185Pro in HOMER2
PMID: 30047143 - Lue et al 2018 - Chinese family with autosomal dominant, non-syndromic hearing loss and a pathogenic variant c.840_841insC in HOMER2 that leads to a premature stop codon).
Azaiez et al 2015 also report mouse mutants homozygous for the targeted deletion of Homer2 present with early-onset rapidly progressive hearing loss. Age-matched WT and Homer2 +/- animals showed no differences in electrophysiological hearing tests.
Created: 28 Jan 2020, 2:12 p.m. | Last Modified: 28 Jan 2020, 2:18 p.m.
Panel Version: 2.4
Two families reported and a mouse model.
Sources: Expert list
Created: 2 Jan 2020, 4:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Deafness, autosomal dominant 68, MIM#616707
Variants in this GENE are reported as part of current diagnostic practice
Gene: homer2 has been classified as Amber List (Moderate Evidence).
gene: HOMER2 was added gene: HOMER2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: HOMER2 were set to 25816005; 30047143; 25816005 Phenotypes for gene: HOMER2 were set to Deafness, autosomal dominant 68, MIM#616707 Review for gene: HOMER2 was set to GREEN gene: HOMER2 was marked as current diagnostic