Familial Meniere Disease

Gene: ADD3

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