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Fetal anomalies v0.3163 PPP3CA Zornitza Stark changed review comment from: The mono-allelic condition is relevant antenatally. However, only 2 individuals reported.

DEE tends to present post-natally.; to: Condition causing multiple congenital anomalies is postulated to be due to GoF variants. However, only 2 individuals reported.

DEE postulated to be due to LoF variants, and presents post-natally.
Fetal anomalies v0.3096 PPP3CA Zornitza Stark Marked gene: PPP3CA as ready
Fetal anomalies v0.3096 PPP3CA Zornitza Stark Gene: ppp3ca has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3096 PPP3CA Zornitza Stark Phenotypes for gene: PPP3CA were changed from Severe Neurodevelopmental Disease with Seizures to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265
Fetal anomalies v0.3095 PPP3CA Zornitza Stark Publications for gene: PPP3CA were set to
Fetal anomalies v0.3094 PPP3CA Zornitza Stark reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3031 PPP3CA Belinda Chong reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: None; Publications: 29432562, 28942967, 28942967; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265, Developmental and epileptic encephalopathy 91 617711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.0 PPP3CA Zornitza Stark gene: PPP3CA was added
gene: PPP3CA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
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