Activity
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10 actions
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| Paediatric or syndromic cardiomyopathy v6.7 | MAP3K7 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAP3K7. Tag Q3_24_NHS_review was removed from gene: MAP3K7. |
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| Paediatric or syndromic cardiomyopathy v6.7 | MAP3K7 | Achchuthan Shanmugasundram reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.6 | MAP3K7 |
Achchuthan Shanmugasundram Source NHS GMS was added to MAP3K7. Source Expert Review Green was added to MAP3K7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v5.5 | MAP3K7 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MAP3K7. Tag Q3_24_NHS_review tag was added to gene: MAP3K7. |
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| Paediatric or syndromic cardiomyopathy v5.5 | MAP3K7 | Sarah Leigh edited their review of gene: MAP3K7: Added comment: At least 15 MAP3K7 variants have been associated with Cardiospondylocarpofacial syndrome (OMIM:157800)(PMID: 35730652;34687574;29467388;27426734). The publications report that the MAP3K7 variants were de novo in 16/18 cases (one variant was inherited from the affected father and one was not maternal and the paternal sample was not available (PMID: 35730652).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.5 | MAP3K7 | Sarah Leigh Publications for gene: MAP3K7 were set to 35730652; 34687574 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.4 | MAP3K7 | Sarah Leigh Phenotypes for gene: MAP3K7 were changed from Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, OMIM:617137 to Cardiospondylocarpofacial syndrome, OMIM:157800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.3 | MAP3K7 | Sarah Leigh Classified gene: MAP3K7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.3 | MAP3K7 | Sarah Leigh Gene: map3k7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.2 | MAP3K7 |
Sarah Leigh gene: MAP3K7 was added gene: MAP3K7 was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP3K7 were set to 35730652; 34687574 Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, OMIM:617137 Review for gene: MAP3K7 was set to AMBER Added comment: Sources: Expert Review |
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