Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.170 | SCARF2 | Achchuthan Shanmugasundram reviewed gene: SCARF2: Rating: RED; Mode of pathogenicity: None; Publications: 29168297, 29620724, 36980886; Phenotypes: Van den Ende-Gupta syndrome, OMIM:600920, craniosynostosis, MONDO:0015469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.74 | SCARF2 | Eleanor Williams Publications for gene: SCARF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | SCARF2 | Eleanor Williams Added phenotypes Van den Ende-Gupta syndrome for gene: SCARF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | SCARF2 | Tracy Lester reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Van den Ende-Gupta syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | SCARF2 | Eleanor Williams reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | SCARF2 | Eleanor Williams Source NHS GMS was added to SCARF2. |