Activity
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| Fetal anomalies v4.192 | PPP2R3C |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP2R3C. Tag Q3_24_NHS_review was removed from gene: PPP2R3C. |
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| Fetal anomalies v4.192 | PPP2R3C | Achchuthan Shanmugasundram edited their review of gene: PPP2R3C: 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 | PPP2R3C |
Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2R3C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.83 | PPP2R3C |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP2R3C. Tag Q3_24_NHS_review tag was added to gene: PPP2R3C. |
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| Fetal anomalies v4.36 | PPP2R3C | Achchuthan Shanmugasundram commented on gene: PPP2R3C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PPP2R3C | Lyn Chitty reviewed gene: PPP2R3C: Rating: GREEN; Mode of pathogenicity: ; Publications: 30893644, 34714774, 34750818; Phenotypes: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | PPP2R3C |
Achchuthan Shanmugasundram gene: PPP2R3C was added gene: PPP2R3C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP2R3C were set to 30893644; 34714774; 34750818 Phenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419 |
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