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Hearing loss

Gene: HOMER2

Amber List (moderate evidence)

HOMER2 (homer scaffolding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000103942
EnsemblGeneIds (GRCh37): ENSG00000103942
OMIM: 604799, Gene2Phenotype
HOMER2 is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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)

Phenotypes
Deafness, autosomal dominant 68, MIM#616707

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal dominant 68, MIM#616707
OMIM
604799
Clinvar variants
Variants in HOMER2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: homer2 has been classified as Amber List (Moderate Evidence).

2 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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