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Growth failure v0.53 | MAP2K1 | Zornitza Stark Marked gene: MAP2K1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.53 | MAP2K1 | Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.53 | MAP2K1 | Zornitza Stark Phenotypes for gene: MAP2K1 were changed from Cardiofaciocutaneous syndrome 3; CFC syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-Facio-Cutaneous syndrome; LEOPARD syndrome to Cardiofaciocutaneous syndrome 3, MIM# 615279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.52 | MAP2K1 | Zornitza Stark Publications for gene: MAP2K1 were set to 23321623; 16439621; 21396583; 16825433 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.0 | MAP2K1 |
Zornitza Stark gene: MAP2K1 was added gene: MAP2K1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K1 were set to 23321623; 16439621; 21396583; 16825433 Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3; CFC syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-Facio-Cutaneous syndrome; LEOPARD syndrome Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |