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Growth failure in early childhood v3.38 | MAP2K2 | Arina Puzriakova Phenotypes for gene: MAP2K2 were changed from CFC syndrome; Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous syndrome; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome to Cardiofaciocutaneous syndrome 4, OMIM:615280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.50 | MAP2K2 | Ivone Leong Publications for gene: MAP2K2 were set to 16439621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | MAP2K2 | Rebecca Foulger reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 21396583, 23379592; Phenotypes: Cardiofaciocutaneous syndrome 4, Cardio-Facio-Cutaneous syndrome type 4, Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous syndrome, CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.26 | MAP2K2 |
Rebecca Foulger Mode of pathogenicity for gene MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome type 4; CFC syndrome for gene: MAP2K2 |
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Growth failure in early childhood v0.1 | MAP2K2 |
Ellen McDonagh gene: MAP2K2 was added gene: MAP2K2 was added to Growth failure in early childhood. Sources: 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 Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome |