Skeletal dysplasia

Gene: SCARF2

Green List (high evidence)

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 Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van den Ende-Gupta syndrome 600920

I don't know

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 SD

Created: 6 Mar 2019, 11:37 a.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported

Created: 29 Jul 2016, 2:26 p.m.

Green List (high evidence)

Tier 1

Created: 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