Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Growth failure v0.55 | MAP2K2 | Zornitza Stark Marked gene: MAP2K2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.55 | MAP2K2 | Zornitza Stark Gene: map2k2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.55 | MAP2K2 | Zornitza Stark Phenotypes for gene: MAP2K2 were changed from CFC syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome; Cardio-Facio-Cutaneous syndrome type 4 to Cardiofaciocutaneous syndrome 4, MIM# 615280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.54 | MAP2K2 | Zornitza Stark Publications for gene: MAP2K2 were set to 16439621; 21396583; 23379592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.0 | MAP2K2 |
Zornitza Stark gene: MAP2K2 was added gene: MAP2K2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K2 were set to 16439621; 21396583; 23379592 Phenotypes for gene: MAP2K2 were set to CFC syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome; Cardio-Facio-Cutaneous syndrome type 4 Mode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |