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Fetal anomalies

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

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

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

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

History Filter Activity

14 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EVC were changed from ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME to Ellis-van Creveld syndrome, MIM# 225500

14 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EVC were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EVC was added gene: EVC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME