Activity
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8 actions
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| Fetal anomalies v5.78 | PIP5K1C |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PIP5K1C. Tag Q1_25_ promote_green was removed from gene: PIP5K1C. |
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| Fetal anomalies v5.78 | PIP5K1C | Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: 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 | PIP5K1C |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIP5K1C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | PIP5K1C |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: PIP5K1C. Tag Q1_25_ promote_green tag was added to gene: PIP5K1C. |
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| Fetal anomalies v5.74 | PIP5K1C |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PIP5K1C. Tag Q1_23_promote_green tag was added to gene: PIP5K1C. |
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| Fetal anomalies v5.16 | PIP5K1C | Achchuthan Shanmugasundram commented on gene: PIP5K1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | PIP5K1C | Sarah Graham reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 17701898, 38491417; Phenotypes: Lethal congenital contractural syndrome 3, MIM#611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | PIP5K1C |
Achchuthan Shanmugasundram gene: PIP5K1C was added gene: PIP5K1C was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIP5K1C were set to 38491417; 17701898 Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, OMIM:611369 |
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