Blepharophimosis
Gene: SCARF2

SCARF2 (scavenger receptor class F member 2)
EnsemblGeneIds (GRCh38): ENSG00000244486
EnsemblGeneIds (GRCh37): ENSG00000244486
OMIM: 613619, Gene2Phenotype
SCARF2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with 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. Intellect is normal.

More than 5 unrelated families reported.
Created: 29 Dec 2020, 7:42 a.m. | Last Modified: 29 Dec 2020, 7:42 a.m.

Panel Version: 0.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van den Ende-Gupta syndrome, MIM# 600920

Publications

Created: 29 Dec 2020, 7:42 a.m.
Last Modified: 29 Dec 2020, 7:42 a.m.
Panel version: 0.21

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Van den Ende-Gupta syndrome, MIM# 600920

OMIM

613619

Clinvar variants

Variants in SCARF2

Penetrance

None

Publications

Panels with this gene