Ectodermal Dysplasia
Gene: EVCEnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 18 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ectodermal dysplasia is a feature.Created: 4 Apr 2021, 7:17 a.m. | Last Modified: 4 Apr 2021, 7:17 a.m.
Panel Version: 0.37
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Ellis-van Creveld syndrome, MIM# 225500
- Weyers acrofacial dysostosis, MIM# 193530
- 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 Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EVC were changed from Weyers acrofacial dysostosis, Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: EVC was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: EVC was added gene: EVC was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: EVC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to Weyers acrofacial dysostosis, Ellis-van Creveld syndrome