This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Red
- Phenotypes
-
- Ellis van Creveld syndrome
- OMIM
- 607261
- Clinvar variants
- Variants in EVC2
- Penetrance
- None
- Panels with this gene
-
- Osteogenesis imperfecta
- Skeletal ciliopathies
- Intellectual disability
- Ductal plate malformation
- Limb disorders
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Childhood onset dystonia, chorea or related movement disorder
- Rare multisystem ciliopathy disorders
- Neurological ciliopathies
History Filter Activity
28 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: EVC2 was added gene: EVC2 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Red,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to Ellis van Creveld syndrome