Activity
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7 actions
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| Fetal anomalies v5.78 | PUM1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PUM1. Tag Q1_25_ promote_green was removed from gene: PUM1. |
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| Fetal anomalies v5.78 | PUM1 | Achchuthan Shanmugasundram edited their review of gene: PUM1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | PUM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PUM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | PUM1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PUM1. Tag Q1_25_ promote_green tag was added to gene: PUM1. |
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| Fetal anomalies v5.16 | PUM1 | Achchuthan Shanmugasundram commented on gene: PUM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | PUM1 | Soo-Mi Park reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25768905, 30903679, 29474920, 31859446, 35386260; Phenotypes: Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | PUM1 |
Achchuthan Shanmugasundram gene: PUM1 was added gene: PUM1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUM1 were set to 30903679; 29474920; 25768905; 35386260; 31859446 Phenotypes for gene: PUM1 were set to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, OMIM:620719 |
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