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| Monogenic hearing loss v2.32 | HOMER2 | Eleanor Williams Classified gene: HOMER2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.32 | HOMER2 | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.32 | HOMER2 | Eleanor Williams Gene: homer2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | HOMER2 |
Eleanor Williams changed review comment from: 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.; to: 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. |
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| Monogenic hearing loss v2.4 | HOMER2 | Eleanor Williams reviewed gene: HOMER2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | HOMER2 |
Zornitza Stark 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 Added comment: Two families reported and a mouse model. Sources: Expert list |
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