Activity
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| Fetal anomalies v4.192 | PPIL1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPIL1. Tag Q3_24_NHS_review was removed from gene: PPIL1. |
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| Fetal anomalies v4.192 | PPIL1 | Achchuthan Shanmugasundram edited their review of gene: PPIL1: 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 | PPIL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PPIL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.83 | PPIL1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPIL1. Tag Q3_24_NHS_review tag was added to gene: PPIL1. |
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| Fetal anomalies v4.36 | PPIL1 | Achchuthan Shanmugasundram commented on gene: PPIL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PPIL1 | Anna de Burca reviewed gene: PPIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: Pontocerebellar hypoplasia, type 14, OMIM:619301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | PPIL1 |
Achchuthan Shanmugasundram gene: PPIL1 was added gene: PPIL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIL1 were set to 33220177 Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, OMIM:619301 |
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