Craniosynostosis

Gene: SCARF2

Red List (low evidence)

SCARF2 (scavenger receptor class F member 2)
EnsemblGeneIds (GRCh38): ENSG00000244486
EnsemblGeneIds (GRCh37): ENSG00000244486
OMIM: 613619, Gene2Phenotype
SCARF2 is in 8 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

2 brothers with CSS reported by Patel et al 2013. CSS also reported in a casewith a microdel involving SCARF2 (Molinatto et al 2011). Clarke et al 2017 show sig increase in damaging variant is SCARF2 in patients with single suture CSS. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van den Ende-Gupta syndrome

Eleanor Williams (Genomics England Curator)

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; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Rare disorder comprising blepharophimosis, malar and/or maxillary hypoplasia, a narrow and beaked nose, everted lower lip, arachnodactyly, camptodactyly, peculiar skeletal abnormalities, and normal development and intelligence
Created: 15 Sep 2015, 9:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van Den Ende-Gupta syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Van den Ende-Gupta syndrome
OMIM
613619
Clinvar variants
Variants in SCARF2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SCARF2 were set to

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Van den Ende-Gupta syndrome for gene: SCARF2

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SCARF2.

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Feb 2016, Gel status: 0

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been removed from the panel.

15 Sep 2015, Gel status: 0

Added New Source

Andrew Wilkie (University of Oxford)

SCARF2 was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review