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Skeletal Dysplasia_Fetal

Gene: EVC

Green List (high evidence)
EVC (EvC ciliary complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 18 panels

4 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Primarily a skeletal ciliopathy, short ribs and narrow chest are a feature.
Created: 20 May 2020, 4:10 a.m. | Last Modified: 20 May 2020, 4:10 a.m.
Panel Version: 0.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ellis-van Creveld syndrome, MIM# 225500

Created: 20 May 2020, 4:10 a.m.
Last Modified: 20 May 2020, 4:10 a.m.
Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.14

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 23220543 - comprehensive paper listing phenotypes for ~20 patients with bilallelic mutations. While polydactyly is a common feature only a single patient is noted to have something resembling JS brain malformation: Dandy-Walker malformation.
Created: 19 May 2020, 10:27 p.m. | Last Modified: 19 May 2020, 10:27 p.m.
Panel Version: 0.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ellis-van Creveld syndrome 225500; ?Weyers acrofacial dysostosis 193530

Publications

Created: 19 May 2020, 10:27 p.m.
Last Modified: 19 May 2020, 10:27 p.m.
Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.14

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well established ciliopathy gene, primarily with skeletal manifestations and rare reports of cerebellar malformations (Dandy-Walker malformation)
Sources: Expert Review
Created: 18 May 2020, 2:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ellis-van Creveld syndrome (MIM#225500)

Publications

Created: 18 May 2020, 2:50 a.m.

Panel version: Imported from Fetal anomalies panel version Imported from Joubert syndrome and other neurological ciliopathies panel version 0.62

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Not a renal ciliopathy, and only one case reported with NPHP and EVC but no molecular testing undertaken (PMID: 9502561).
Created: 3 Jan 2020, 3:54 a.m. | Last Modified: 3 Jan 2020, 3:54 a.m.
Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 3 Jan 2020, 3:54 a.m.
Last Modified: 3 Jan 2020, 3:54 a.m.
Panel version: Imported from Fetal anomalies panel version Imported from Renal Ciliopathies and Nephronophthisis panel version 0.40

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: EVC was added gene: EVC 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: EVC was set to Unknown