Familial Meniere Disease

Gene: FAM136A

Green List (high evidence)

A nonsense mutation was found in a single family segregating the complete phenotype.
Another ultrarare variant in DTNA gene was found in the same family and both remain as candidate variants for autosomal dominant familial Meniere disease.
Another woman presented episodic vertigo without hearing loss in the second generation.

Created: 20 Feb 2018, 5:50 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 DTNA . Nonsense variant in FAM136A likely to be pathogenic.

Created: 21 Mar 2018, 11:08 a.m.

Added tag of watchlist as only 1 family reported but one reviewer rates as green and 2 red.

Created: 21 Mar 2018, 11:04 a.m.

Added tag of multifactorial in response to reviewer comments.

Created: 14 Feb 2018, 2:01 p.m.

Comment on publications: Added publication as recommended as reviewers.

Created: 14 Feb 2018, 1:42 p.m.

Comment on mode of inheritance: Mode of inheritance updated following reviewer feedback

Created: 14 Feb 2018, 1:40 p.m.

Red List (low evidence)

Single family, author suggests multifactorial origin

Created: 28 Jan 2018, 9:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 25305078

Red List (low evidence)

single family reported

Created: 24 Jan 2018, 10:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• PubMed: 25305078