GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: SCARF2

SCARF2 (scavenger receptor class F member 2)
EnsemblGeneIds (GRCh38): ENSG00000244486
EnsemblGeneIds (GRCh37): ENSG00000244486
OMIM: 613619, Gene2Phenotype
SCARF2 is in 7 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

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, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van den Ende-Gupta syndrome 600920

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Van den Ende-Gupta syndrome 600920

OMIM

613619

Clinvar variants

Variants in SCARF2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SCARF2 was added gene: SCARF2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome 600920

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: SCARF2