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| Paediatric or syndromic cardiomyopathy v0.16 | MAP2K2 | Ivone Leong reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | MAP2K2 | Ivone Leong Source NHS GMS was added to MAP2K2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.4 | MAP2K2 |
Ivone Leong Source Expert List was added to MAP2K2. 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 Cardiofaciocutaneous syndrome 4 615280 for gene: MAP2K2 Publications for gene MAP2K2 were changed from PMID: 21396583; 23379592 to 23379592; 21396583 |
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| Paediatric or syndromic cardiomyopathy v0.1 | MAP2K2 |
Ivone Leong gene: MAP2K2 was added gene: MAP2K2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K2 were set to PMID: 21396583; 23379592 Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome; CFC syndrome; syndromic HCM; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome |
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