Activity
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| Fetal anomalies v4.192 | MAPKAPK5 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAPKAPK5. Tag Q3_24_NHS_review was removed from gene: MAPKAPK5. |
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| Fetal anomalies v4.192 | MAPKAPK5 | Achchuthan Shanmugasundram edited their review of gene: MAPKAPK5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | MAPKAPK5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAPKAPK5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.72 | MAPKAPK5 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAPKAPK5. Tag Q3_24_NHS_review tag was added to gene: MAPKAPK5. |
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| Fetal anomalies v4.36 | MAPKAPK5 | Achchuthan Shanmugasundram commented on gene: MAPKAPK5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MAPKAPK5 | Natalie Chandler reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575217, 33442026; Phenotypes: Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | MAPKAPK5 |
Achchuthan Shanmugasundram gene: MAPKAPK5 was added gene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKAPK5 were set to 35575217; 33442026 Phenotypes for gene: MAPKAPK5 were set to Neurocardiofaciodigital syndrome, OMIM:619869 |
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