Ductal plate malformation
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
-
- Expert Review Removed
- Emory Genetics Laboratory
- Expert list
- UKGTN
- Phenotypes
-
- Ellis-van Creveld syndrome (225500)
- Tags
- OMIM
- 607261
- Clinvar variants
- Variants in EVC2
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Skeletal ciliopathies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- Ductal plate malformation
- Limb disorders
- Intellectual disability
- Gastrointestinal neuromuscular disorders
- DDG2P
- Neurological ciliopathies
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: EVC2.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: New gene name is CPLANE
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to EVC2. Rating Changed from Amber List (moderate evidence) to No List (delete)
6 Nov 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: EVC2 was added gene: EVC2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Expert list,Emory Genetics Laboratory Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome (225500)