Activity
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| Fetal anomalies v4.192 | PPP3CA |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP3CA. Tag Q3_24_NHS_review was removed from gene: PPP3CA. |
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| Fetal anomalies v4.192 | PPP3CA | Achchuthan Shanmugasundram edited their review of gene: PPP3CA: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 v4.191 | PPP3CA |
Achchuthan Shanmugasundram Source Expert Review Green was added to PPP3CA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.84 | PPP3CA | Achchuthan Shanmugasundram Phenotypes for gene: PPP3CA were changed from Severe Neurodevelopmental Disease with Seizures; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.83 | PPP3CA |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP3CA. Tag Q3_24_NHS_review tag was added to gene: PPP3CA. |
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| Fetal anomalies v4.36 | PPP3CA | Achchuthan Shanmugasundram commented on gene: PPP3CA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PPP3CA | Anna de Burca reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942967, 33082562, 29432562; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | PPP3CA |
Achchuthan Shanmugasundram Source NHS GMS was added to PPP3CA. Mode of inheritance for gene PPP3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 for gene: PPP3CA Publications for gene: PPP3CA were updated from to 28942967; 33082562; 29432562 |
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| Fetal anomalies v0.9 | PPP3CA | Rebecca Foulger commented on gene: PPP3CA: DDG2P rating in original PAGE list: Probable for Severe Neurodevelopmental Disease with Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | PPP3CA | Rebecca Foulger reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PPP3CA |
Rebecca Foulger gene: PPP3CA was added gene: PPP3CA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures |
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