Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.4542 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Fetal anomalies v0.4542 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Fetal anomalies v0.4542 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Fetal anomalies v0.4541 PPP2R1A Zornitza Stark Publications for gene: PPP2R1A were set to
Fetal anomalies v0.4540 PPP2R1A Zornitza Stark Mode of pathogenicity for gene: PPP2R1A was changed from to Other
Fetal anomalies v0.4539 PPP2R1A Zornitza Stark Mode of inheritance for gene: PPP2R1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.0 PPP2R1A Zornitza Stark gene: PPP2R1A was added
gene: PPP2R1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP2R1A were set to INTELLECTUAL DISABILITY