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| Paediatric or syndromic cardiomyopathy v0.16 | MAP2K1 | Ivone Leong reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | MAP2K1 | Ivone Leong Source NHS GMS was added to MAP2K1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.4 | MAP2K1 |
Ivone Leong Source Expert List was added to MAP2K1. 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 CFC syndrome; ?Noonan syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome for gene: MAP2K1 Publications for gene MAP2K1 were changed from 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583 to PMID: 21396583; 23321623 (publication referring to Noonan syndrome association). |
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| Paediatric or syndromic cardiomyopathy v0.1 | MAP2K1 |
Ivone Leong gene: MAP2K1 was added gene: MAP2K1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K1 were set to 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583 Phenotypes for gene: MAP2K1 were set to Cardio-Facio-Cutaneous syndrome; CFC syndrome; syndromic HCM; ?Noonan syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome |
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