Deafness and congenital structural abnormalities
Gene: EVCEnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 14 panels
6 reviews
Muriel Holder (Clinical Genetics, Guy's Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity
Other
Sarah Leigh (Genomics England Curator)
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.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:56 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Variants in this GENE are reported as part of current diagnostic practice
Jun Shen (Harvard Medical School)
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
Maria Bitner-Glindzicz (UCL)
MIM 604831Created: 3 Feb 2016, 4:47 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Expert Review Red
- Expert list
- Phenotypes
-
- Bilateral Microtia
- Weyers acrodental dysostosis
- OMIM
- 604831
- Clinvar variants
- Variants in EVC
- Penetrance
- Complete
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Deafness and congenital structural abnormalities
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Osteogenesis imperfecta
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)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
Added New Source
Sarah Leigh (Genomics England Curator)EVC was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red
Created
Sarah Leigh (Genomics England Curator)EVC was created by sleigh