Familial Meniere Disease
Gene: FAM136A
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
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 feedbackCreated: 14 Feb 2018, 1:40 p.m.
Single family, author suggests multifactorial originCreated: 28 Jan 2018, 9:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
single family reportedCreated: 24 Jan 2018, 10:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
External reviews collated. Internal clinical input. Ready for version 1.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for FAM136A were set to Meniere disease
Publications for FAM136A were set to 28787010; 25305078
Publications for FAM136A were set to 28787010; 25305078
Mode of inheritance for FAM136A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Literature was added to FAM136A. Panel: Familial Meniere Disease Publications for gene FAM136A was set to ['28787010']
FAM136A was added to Familial Meniere Disease panel. Sources: Other
FAM136A was created by Eleanor Williams