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  2. Skeletal dysplasia
  3. EVC2
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Skeletal dysplasia

Gene: EVC2

Green List (high evidence)
EVC2 (EvC ciliary complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000173040
EnsemblGeneIds (GRCh37): ENSG00000173040
OMIM: 607261, Gene2Phenotype
EVC2 is in 17 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Skeletal features are prominent.
Created: 24 May 2020, 11:36 a.m. | Last Modified: 24 May 2020, 11:36 a.m.
Panel Version: 0.50

Phenotypes
Ellis-van Creveld syndrome (MIM#225500)

Created: 24 May 2020, 11:36 a.m.
Last Modified: 24 May 2020, 11:36 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.50

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported ciliopathy assciated with skeletal malformations.
Created: 18 May 2020, 3:06 a.m. | Last Modified: 18 May 2020, 3:06 a.m.
Panel Version: 0.152

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ellis-van Creveld syndrome (MIM#225500)

Publications

Created: 18 May 2020, 3:06 a.m.
Last Modified: 18 May 2020, 3:06 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.152

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Ellis-van Creveld syndrome 225500
  • Weyers acrofacial dysostosis 193530
OMIM
607261
Clinvar variants
Variants in EVC2
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EVC2 was added gene: EVC2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services 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; Weyers acrofacial dysostosis 193530