Craniosynostosis
Gene: SCARF2EnsemblGeneIds (GRCh38): ENSG00000244486
EnsemblGeneIds (GRCh37): ENSG00000244486
OMIM: 613619, Gene2Phenotype
SCARF2 is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single family reported with craniosynostosis as a feature of the condition.
Sources: LiteratureCreated: 17 Sep 2020, 8:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Van den Ende-Gupta syndrome MIM#600920
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: scarf2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SCARF2 was added gene: SCARF2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCARF2 were set to 23808541 Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome MIM#600920 Review for gene: SCARF2 was set to RED