Congenital Heart Defect
Gene: EVC
EVC (EvC ciliary complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, CHD in approximately 60%.Created: 24 Nov 2023, 7:32 a.m. | Last Modified: 24 Nov 2023, 7:32 a.m.
Panel Version: 0.402
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, MIM# 225500
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Prepair 500+
- Mandibulofacial Acrofacial dysostosis
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
24 Nov 2023, 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).
24 Nov 2023, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM# 225500
24 Nov 2023, Gel status: 3
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
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 Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EVC was set to Unknown