Activity
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8 actions
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| Fetal anomalies v5.80 | PSMF1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PSMF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.78 | PSMF1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PSMF1. Tag Q1_25_ promote_green was removed from gene: PSMF1. |
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| Fetal anomalies v5.78 | PSMF1 | Achchuthan Shanmugasundram edited their review of gene: PSMF1: 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 | PSMF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PSMF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | PSMF1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PSMF1. Tag Q1_25_ promote_green tag was added to gene: PSMF1. |
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| Fetal anomalies v5.16 | PSMF1 | Achchuthan Shanmugasundram commented on gene: PSMF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | PSMF1 | Sarah Graham reviewed gene: PSMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39148840; Phenotypes: Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | PSMF1 |
Achchuthan Shanmugasundram gene: PSMF1 was added gene: PSMF1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMF1 were set to 39148840 Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related |
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