Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Fetal anomalies v0.2910 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Fetal anomalies v0.2910 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2910 SMPD4 Zornitza Stark Classified gene: SMPD4 as Green List (high evidence)
Fetal anomalies v0.2910 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Fetal anomalies v0.0 SMPD4 Zornitza Stark gene: SMPD4 was added
gene: SMPD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to 31495489
Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838; Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622