Familial Meniere Disease

Gene: DTNA

The same family segragated another mutation in FAM136A.
The missense mutation in the DTNA gene produces a novel splice site which skips exon 21 and leads to a shorter alternative transcript. This variant has been found in another unrelated individual with episodic vertigo in the spanish population

Created: 20 Feb 2018, 5:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Meniere disease

Publications

• PMID: 25305078

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

Comment on list classification: Rated as Amber with watchlist tag. One published case of a single family with variant in this gene plus another variant in FAM136A . Also one unpublished case in an unrelated individual with episodic vertigo.

Created: 21 Mar 2018, 10:20 a.m.

Added tag of watchlist since two cases now reported (1 by reviewer)

Created: 21 Mar 2018, 10:15 a.m.

Comment on publications: Added publication as recommended as reviewers.

Created: 8 Feb 2018, 5:09 p.m.

Comment on mode of inheritance: Added MOI based on reviewer comment. Note evidence only in one published family to date.

Created: 8 Feb 2018, 5:04 p.m.

Added tag of multifactorial in response to reviewer comments. 2018-02-08.

Created: 8 Feb 2018, 5:02 p.m.

Red List (low evidence)

Variant was not found in Exome variant server databases. Author suggests multifactorial etiology in this family

Created: 28 Jan 2018, 9:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 25305078

Red List (low evidence)

Mechanism of action unknown.
Single family described

Created: 24 Jan 2018, 10:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• PubMed: 25305078

Mode of pathogenicity
Other