Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Fetal anomalies v0.4559 PNKP Zornitza Stark Marked gene: PNKP as ready
Fetal anomalies v0.4559 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Fetal anomalies v0.4559 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from ATAXIA-OCULOMOTOR APRAXIA 4; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 to Microcephaly, seizures, and developmental delay, MIM#613402
Fetal anomalies v0.4558 PNKP Zornitza Stark Publications for gene: PNKP were set to
Fetal anomalies v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to ATAXIA-OCULOMOTOR APRAXIA 4; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10