Primary ciliary disorders
Gene: EVC2
EVC2 (EvC ciliary complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000173040
EnsemblGeneIds (GRCh37): ENSG00000173040
OMIM: 607261, Gene2Phenotype
EVC2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000173040
EnsemblGeneIds (GRCh37): ENSG00000173040
OMIM: 607261, Gene2Phenotype
EVC2 is in 14 panels
2 reviews
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:33 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- OMIM
- 607261
- Clinvar variants
- Variants in EVC2
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal ciliopathies
- Osteogenesis imperfecta
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- DDG2P
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Rare multisystem ciliopathy disorders
- Neurological ciliopathies
- Fetal anomalies
History Filter Activity
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)EVC2 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory