Gastrointestinal neuromuscular disorders

Gene: EVC2

Red List (low evidence)

EVC2 (EvC ciliary complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000173040
EnsemblGeneIds (GRCh37): ENSG00000173040
OMIM: 607261, Gene2Phenotype
EVC2 is in 16 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)

I don't know

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)

Green List (high evidence)

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)

Red List (low evidence)

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

History Filter Activity

26 Oct 2016, Gel status: 1

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.

25 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

14 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EVC2 was created by sleigh

14 Sep 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

EVC2 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature