Familial Meniere Disease
Gene: MARVELD2EnsemblGeneIds (GRCh38): ENSG00000152939
EnsemblGeneIds (GRCh37): ENSG00000152939
OMIM: 610572, Gene2Phenotype
MARVELD2 is in 2 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment 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.
Jose Antonio Lopez-Escamez (Center for Genomic GENyO)
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sporadic Meniere disease harbor an ultrarare synonymous mutation in MARVELD2 that it is only found in 1 case in gnomAD (unpublished findings).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
- Non published
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Sporadic Meniere disease
- Deafness, autosomal recessive 49 610153
- OMIM
- 610572
- Clinvar variants
- Variants in MARVELD2
- Penetrance
- unknown
- Publications
-
- Non published
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)External reviews collated. Internal clinical input. Ready for version 1.
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for MARVELD2 were set to Sporadic Meniere disease; Deafness, autosomal recessive 49 610153
Added New Source
Jose Antonio Lopez-Escamez (Center for Genomic GENyO)MARVELD2 was added to Familial Meniere Disease panel. Sources: Expert list
Created
Jose Antonio Lopez-Escamez (Center for Genomic GENyO)MARVELD2 was created by Jose Antonio Lopez-Escamez