Deafness and congenital structural abnormalities
Gene: EVC
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity
Other
Comment when marking as ready: Associated with phenotypes in OMIM and G2P / DD. Only one variant reported in Weyers acrodental dysostosis 193530.Created: 14 Sep 2016, 1:55 p.m.
Comment on phenotypes: Biallelic variants also reported in Ellis-van Creveld syndrome 225500Created: 14 Sep 2016, 12:48 p.m.
Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:56 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
#193530:Weyers acrodental dysostosis [Short stature, mild; Prominent antihelix; Hypotelorism; Multiple frenula; Single central incisor; Conical teeth (permanent teeth); Irregular, small, or absent incisors (permanent teeth); Cleft of mandibular symphysis (infancy); Short hands; Postaxial polydactyly; Fifth finger clinodactyly; Mild brachydactyly; Postaxial polydactyly; Hypoplastic nails; Dysplastic nails]; #225500:Ellis-van Creveld syndrome [Short-limb dwarfism identifiable at birth; Average adult height, 109 to 152 cm; Normocephaly; Normal with exception of upper-lip defect; Partial cleft lip; Defect in alveolar ridge; Neonatal teeth; Hypodontia; Delayed eruption; Atrial septal defect; Single atrium; Other congenital heart defects; Narrow chest; Pectus carinatum; Short, poorly developed ribs; Epispadias; Hypospadias; Cryptorchidism; Low iliac wings; Spur-like projections at medialateral aspect of acetabula; Centrifugal shortening of limbs; Fusion of capitate and hamate; Genu valgum; Short, thickened tubular bones; Difficulty forming a fist; Postaxial polydactyly; Cone-shaped epiphyses of phalanges 2 to 5; Talipes equinovarus; Postaxial polydactyly; Nail dysplasia; Mental retardation (some); Dandy-Walker malformation]
Publications
MIM 604831Created: 3 Feb 2016, 4:47 p.m.
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
EVC was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory EVC was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services EVC was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen EVC was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN Model of inheritance for gene EVC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
EVC was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red
EVC was created by sleigh