Arthrogryposis
Gene: SCARF2EnsemblGeneIds (GRCh38): ENSG00000244486
EnsemblGeneIds (GRCh37): ENSG00000244486
OMIM: 613619, Gene2Phenotype
SCARF2 is in 7 panels
1 review
Alice Gardham (Genomics England)
Reasonable number of reported cases.Created: 9 Jan 2017, 3:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Van den Ende-Gupta syndrome 600920
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Van den Ende-Gupta syndrome 600920
- OMIM
- 613619
- Clinvar variants
- Variants in SCARF2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)SCARF2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Literature
Created
Alice Gardham (Genomics England)SCARF2 was created by agardham