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  3. EVC2
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Rare multisystem ciliopathy disorders

Gene: EVC2

Green List (high evidence)
EVC2 (EvC ciliary complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000173040
EnsemblGeneIds (GRCh37): ENSG00000173040
OMIM: 607261, Gene2Phenotype
EVC2 is in 14 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed DD gene for Ellis-van Creveld syndrome, more than 3 cases/family reports and different variants reported, green on the Unexplained skeletal dysplasia Version 1.3 gene panel.
Created: 13 Dec 2016, 2:07 p.m.
Created: 13 Dec 2016, 2:07 p.m.

Panel version: 0.368

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrofacial dysostosis, 193530
OMIM
607261
Clinvar variants
Variants in EVC2
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

19 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

13 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

25 Nov 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

EVC2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

25 Nov 2016, Gel status: 3

Upload gene information

Ellen McDonagh (Genomics England Curator)

EVC2 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 3

Upload gene information

Ellen McDonagh (Genomics England Curator)

EVC2 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

EVC2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

EVC2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene EVC2 were set to Ellis-van Creveld syndrome, 225500;Weyers acrofacial dysostosis, 193530

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EVC2 was created by ellenmcdonagh

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EVC2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list