Activity
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7 actions
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| Fetal anomalies v5.78 | PI4K2A |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PI4K2A. Tag Q1_25_ promote_green was removed from gene: PI4K2A. |
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| Fetal anomalies v5.78 | PI4K2A | Achchuthan Shanmugasundram edited their review of gene: PI4K2A: 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 v5.77 | PI4K2A |
Achchuthan Shanmugasundram Source Expert Review Green was added to PI4K2A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | PI4K2A |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PI4K2A. Tag Q1_25_ promote_green tag was added to gene: PI4K2A. |
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| Fetal anomalies v5.16 | PI4K2A | Achchuthan Shanmugasundram commented on gene: PI4K2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | PI4K2A | Sarah Graham reviewed gene: PI4K2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30564627, 35880319, 32418222; Phenotypes: Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM#620732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | PI4K2A |
Achchuthan Shanmugasundram gene: PI4K2A was added gene: PI4K2A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4K2A were set to 35880319; 32418222; 30564627 Phenotypes for gene: PI4K2A were set to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 |
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