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Gene: SCARF2

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

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

SCARF2, HGNC:19869. From Mendeliome/OMIM entry; 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: 4 Feb 2025, 2:43 a.m. | Last Modified: 4 Feb 2025, 2:43 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van den Ende-Gupta syndrome, MIM#600920

Publications

Created: 4 Feb 2025, 2:43 a.m.
Last Modified: 4 Feb 2025, 2:43 a.m.
Panel version: 1.1397

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Van den Ende-Gupta syndrome, MIM#600920
OMIM
613619
Clinvar variants
Variants in SCARF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scarf2 has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCARF2 were changed from Van den Ende-Gupta syndrome, 600920 (3) to Van den Ende-Gupta syndrome, MIM#600920

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCARF2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCARF2 was added gene: SCARF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)