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| Growth failure in early childhood v3.37 | MAP2K1 | Arina Puzriakova Phenotypes for gene: MAP2K1 were changed from LEOPARD syndrome; CFC syndrome; Cardiofaciocutaneous syndrome; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome to Cardiofaciocutaneous syndrome 3, OMIM:615279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.49 | MAP2K1 | Ivone Leong Publications for gene: MAP2K1 were set to 16825433, 16439621; 21396583; 23321623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.48 | MAP2K1 | Ivone Leong Publications for gene: MAP2K1 were set to 16825433, 16439621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.27 | MAP2K1 | Rebecca Foulger reviewed gene: MAP2K1: 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, 23321623 (publication referring to Noonan syndrome association).; Phenotypes: Cardiofaciocutaneous syndrome 3, Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous syndrome, CFC syndrome, LEOPARD syndrome, ?Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.26 | MAP2K1 |
Rebecca Foulger Mode of pathogenicity for gene MAP2K1 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 LEOPARD syndrome; CFC syndrome; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome for gene: MAP2K1 |
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| Growth failure in early childhood v0.1 | MAP2K1 |
Ellen McDonagh gene: MAP2K1 was added gene: MAP2K1 was added to Growth failure in early childhood. Sources: 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 16825433, 16439621 Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome |
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