Familial Meniere Disease

Gene: ADD3

Red List (low evidence)

ADD3 (adducin 3)
EnsemblGeneIds (GRCh38): ENSG00000148700
EnsemblGeneIds (GRCh37): ENSG00000148700
OMIM: 601568, Gene2Phenotype
ADD3 is in 3 panels

1 review

Eldar Dedic (Independent Clinical Genetics Consultant)

Red List (low evidence)

- No Meniere disease patient with rare ADD3 variant has been found through literature search

- There are no likely pathogenic/pathogenic (LP/P) variants within ADD3 associated with familial Meniere disease according to ClinVar. The only LP/P variant reported within this gene by ClinVar is associated with cerebral palsy

- This gene is having pLI score of 1 (gnomAD v2.1.1) and an HI score of 11.14% (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 SVs v2.1 or DGV: Gold Standard Variants

- No model associating this gene with familial Meniere disease has been reported in publications or by MGI, IMPC, or Alliance

- According to the GenCC, one submitter associated this gene with cerebral palsy, spastic quadriplegic, 3 in autosomal recessive (AR) mode of inheritance (MOI) with Limited classification

- OMIM associated this gene with Cerebral palsy, spastic quadriplegic, 3 in AR MOI

- Orphanet associated this gene with Inherited congenital spastic tetraplegia
Created: 11 Oct 2021, 7:01 a.m. | Last Modified: 11 Oct 2021, 7:01 a.m.
Panel Version: 1.1

Mode of inheritance
Unknown

Details

Sources
  • Literature
OMIM
601568
Clinvar variants
Variants in ADD3
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)

ADD3 was added to Familial Meniere Disease panel. Sources: Literature

17 Jan 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

ADD3 was created by Eleanor Williams