Familial Meniere Disease
Gene: MARVELD2Comment when marking as ready: Awaiting further evidence of association with Familial Meniere disease.Created: 21 Mar 2018, 4:05 p.m.
Comment on list classification: Reviewer reports 3 independent cases of a synonymous variant associated with sporadic Meniere disease. Variants in this gene are associated with Deafness, autosomal recessive 49 (MIM:610153). No other reports of association with Meniere disease in PubMed.Created: 21 Mar 2018, 4:03 p.m.
3 unrelated individuals from a Spanish cohort (N=890) with sporadic Meniere disease harbor an ultrarare synonymous mutation in MARVELD2 that it is only found in 1 case in gnomAD (unpublished findings). This variant in not found in Spanish Variant server.
The functional role is unknown.Created: 20 Feb 2018, 6:03 p.m.
Mode of inheritance
Unknown
Phenotypes
Sporadic Meniere disease
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
External reviews collated. Internal clinical input. Ready for version 1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for MARVELD2 were set to Sporadic Meniere disease; Deafness, autosomal recessive 49 610153
MARVELD2 was added to Familial Meniere Disease panel. Sources: Expert list
MARVELD2 was created by Jose Antonio Lopez-Escamez