Limb disorders
Gene: EVCEnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 14 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 10:51 p.m.
Details
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Phenotypes
-
- Polydactyly
- Tags
- OMIM
- 604831
- Clinvar variants
- Variants in EVC
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Osteogenesis imperfecta
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Limb disorders
- Deafness and congenital structural abnormalities
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- DDG2P
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: EVC.
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Comment on list classification
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: evc has been removed from the panel.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: evc has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to EVC. Rating Changed from Red List (low evidence) to No List (delete)
Added New Source
Ellen McDonagh (Genomics England Curator)EVC was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)EVC was created by Ellen McDonagh