Familial Meniere Disease
Gene: DIAPH1EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 12 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment when marking as ready: No evidence for association with Familial Meniere's disease at this time.Created: 13 Mar 2018, 1:51 p.m.
Maria Bitner-Glindzicz (UCL)
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Sources
-
- Expert Review Red
- Literature
- OMIM
- 602121
- Clinvar variants
- Variants in DIAPH1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- Monogenic hearing loss
- Intellectual disability
- Inherited bleeding disorders
- Fetal anomalies
- Severe microcephaly
- Cerebral vascular malformations
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).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DIAPH1 were set to 28787010
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DIAPH1 were set to 28787010; 28787010
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for DIAPH1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added New Source
Eleanor Williams (Genomics England Curator)DIAPH1 was added to Familial Meniere Disease panel. Sources: Literature
Created
Eleanor Williams (Genomics England Curator)DIAPH1 was created by Eleanor Williams