Gastrointestinal neuromuscular disorders
Gene: EVC2EnsemblGeneIds (GRCh38): ENSG00000173040
EnsemblGeneIds (GRCh37): ENSG00000173040
OMIM: 607261, Gene2Phenotype
EVC2 is in 14 panels
4 reviews
Richard Scott (Genomics England Curator)
Comment on list classification: Pseudo-obstruction reported in only a single case to date. Is present on skeletal/ciliopathy panels. Not for inclusion at this stage.Created: 25 Oct 2016, 3:53 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Evidence for >5 cases/families with Ellis-van Creveld syndrome and different variants in this gene reported in OMIM, and it is a confirmed DD gene for this syndrome. However, I am unsure whether all cases display pseudo-obstruction and therefore whether this gene should be included on this panel.Created: 19 Oct 2016, 10:45 a.m.
Neil shah (GOSH)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Additional clinical feature added to the phenotype in single case, with compound heterozygosity of two terminating variants.Created: 14 Sep 2016, 1:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, with chronic intestinal pseudo-obstruction 225500
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Ellis-van Creveld syndrome, with chronic intestinal pseudo-obstruction 225500
- OMIM
- 607261
- Clinvar variants
- Variants in EVC2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- DDG2P
- Gastrointestinal neuromuscular disorders
- 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
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Sarah Leigh (Genomics England Curator)EVC2 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)EVC2 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature