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Prepair 1000+

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well characterised disease-gene association. Skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects are also common. Animal models present. Onset of features can be in utero.
Gene: EVC also known cause of condition.
Created: 2 Sep 2024, 5:51 a.m. | Last Modified: 2 Sep 2024, 5:51 a.m.
Panel Version: 1.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ellis-van Creveld syndrome MIM#225500

Publications

Created: 2 Sep 2024, 5:51 a.m.
Last Modified: 2 Sep 2024, 5:51 a.m.
Panel version: 1.248

History Filter Activity

6 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: evc2 has been classified as Green List (High Evidence).

6 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: EVC2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Ellis-van Creveld syndrome, 225500 (3) for gene: EVC2

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)