Skeletal dysplasia
Gene: SCARF2
Van den Ende-Gupta syndrome is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism, including triangular face, malar hypoplasia, narrow nose, everted lips, and blepharophimosis. Skeletal anomalies include slender ribs, hooked clavicles, and dislocated radial head. >3 cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Van den Ende-Gupta syndrome 600920
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SCARF2; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 29 Jul 2016, 2:26 p.m.
Tier 1Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Van den Ende-Gupta syndrome 600920; Hyt nen MK et al. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet. 2016 May 17, 12(5):e1006037
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Van den Ende-Gupta syndrome 600920 for gene: SCARF2
Source NHS GMS was added to SCARF2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for SCARF2 were set to Van den Ende-Gupta syndrome 600920
Mode of inheritance for SCARF2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SCARF2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
SCARF2 was created by sleigh
SCARF2 was added to Unexplained skeletal dysplasiapanel. Sources: