Renal Ciliopathies and Nephronophthisis
Gene: EVCEnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 18 panels
4 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Primarily a skeletal ciliopathy, short ribs and narrow chest are a feature. Renal abnormalities not prominent.Created: 20 May 2020, 4:10 a.m. | Last Modified: 18 Jul 2021, 6:29 a.m.
Panel Version: 0.322
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, MIM# 225500
Elena Savva (Victorian Clinical Genetics Services)
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
- PMID: 23220543
Crystle Lee (Victorian Clinical Genetics Services)
Well established ciliopathy gene, primarily with skeletal manifestations and rare reports of cerebellar malformations (Dandy-Walker malformation)
Sources: Expert ReviewCreated: 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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Red
- KidGen_CilioNephronop v38.1.0
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ellis-van Creveld syndrome, MIM#225500
- OMIM
- 604831
- Clinvar variants
- Variants in EVC
- Penetrance
- None
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ectodermal Dysplasia
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Congenital Heart Defect
- Mendeliome
- Prepair 500+
- Mandibulofacial Acrofacial dysostosis
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: evc has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome, MIM#225500 to Ellis-van Creveld syndrome, MIM#225500
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM#225500
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: evc has been classified as Red List (Low Evidence).
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 Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: EVC was set to Unknown