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  3. EVC2
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Skeletal Dysplasia_Fetal

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 Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.50

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well reported ciliopathy with overlapping short rib polydactyly (SRP) syndromes features.
Created: 18 May 2020, 3:10 a.m. | Last Modified: 18 May 2020, 3:10 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ellis-van Creveld syndrome (MIM#225500)

Publications

Created: 18 May 2020, 3:10 a.m.
Last Modified: 18 May 2020, 3:10 a.m.
Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.11

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EVC2 was added gene: EVC2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EVC2 was set to Unknown