Gastrointestinal neuromuscular disorders
Gene: EVC2Comment 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.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
EVC2 was created by sleigh
EVC2 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature