Familial Meniere Disease
Gene: ADD2
ADD2 (adducin 2)
EnsemblGeneIds (GRCh38): ENSG00000075340
EnsemblGeneIds (GRCh37): ENSG00000075340
OMIM: 102681, Gene2Phenotype
ADD2 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000075340
EnsemblGeneIds (GRCh37): ENSG00000075340
OMIM: 102681, Gene2Phenotype
ADD2 is in 1 panel
1 review
Eldar Dedic (Independent Clinical Genetics Consultant)
- No Meniere disease patient with rare ADD2 variant has been found through literature search
- There are no likely pathogenic/pathogenic variants within ADD2 according to ClinVar
- This gene is having pLI score of 1 (gnomAD v2.1.1) and an HI score of 37.61% (Decipher)
- There are no high frequency potentially loss of function (pLOF) variants (gnomAD v2.1.1)
- There are no high-frequency pLOF copy number variants reported by gnomAD SV v2.1 or DGV Gold Standard Variants
- No model associating this gene with hearing loss has been reported in publications or by MGI, IMPC, or Alliance
- OMIM and Orphanet did not associate this gene with any phenotypeCreated: 10 Oct 2021, 12:17 p.m. | Last Modified: 10 Oct 2021, 12:17 p.m.
Panel Version: 1.1
Mode of inheritance
Unknown
Details
- Sources
-
- Literature
- OMIM
- 102681
- Clinvar variants
- Variants in ADD2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
27 Mar 2018, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)External reviews collated. Internal clinical input. Ready for version 1.
17 Jan 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)ADD2 was added to Familial Meniere Disease panel. Sources: Literature
17 Jan 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)ADD2 was created by Eleanor Williams