Skeletal Dysplasia_Fetal
Gene: EVC
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
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
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
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
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