Familial Meniere Disease
Gene: PRKCB
Single family with autoimmune background carry a missense mutation segregating the hearing loss phenotype in 3 males. The father of the proband only showed sudden SNHL with response to steroids. This gene has a tonotopic gene expression in the mouse cochlea that was demostrated in tectal cells (specific type of supporting cell)Created: 20 Feb 2018, 5:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Meniere disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Watchlist tag addedCreated: 21 Mar 2018, 2:33 p.m.
Comment on list classification: Martin-Sierra et al 2016 (PMID:27329761) report a single family with two affected individuals and missense variant in PRKCB. Several relatives presented a partial syndrome with episodic vestibular symptoms, but no hearing loss (III-5, III-8), and they did not present the novel PRKCB variant. Publication demonstrates a tonotopic gradient for PKCB II expression in tectal cells in the rat cochlea.Created: 21 Mar 2018, 2:33 p.m.
Added tag of multifactorial in response to reviewer comments.Created: 14 Feb 2018, 2:02 p.m.
Comment on publications: Added publications as recommended as reviewers.Created: 14 Feb 2018, 1:47 p.m.
Comment on mode of inheritance: Mode of inheritance updated after reviewer feedback.Created: 14 Feb 2018, 1:38 p.m.
incomplete penetrance, small family (2 affected individuals), suggestion of additional genetic or environmental factors contributed to this vestibular phenotypeCreated: 28 Jan 2018, 9:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
single small family describedCreated: 24 Jan 2018, 10:05 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 PRKCB were set to Meniere disease
Publications for PRKCB were set to 29095749; 27329761; 25305078
Publications for PRKCB were set to 29095749; 27329761; 25305078
Publications for PRKCB were set to 29095749; 27329761; 27329761; 25305078
Mode of inheritance for PRKCB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Literature was added to PRKCB. Panel: Familial Meniere Disease Publications for gene PRKCB was set to ['29095749']
PRKCB was added to Familial Meniere Disease panel. Sources: Other
PRKCB was created by Eleanor Williams