Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Fetal anomalies v0.2401 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Fetal anomalies v0.2401 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Fetal anomalies v0.2401 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Fetal anomalies v0.2401 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Fetal anomalies v0.2400 TRAPPC12 Zornitza Stark edited their review of gene: TRAPPC12: Added comment: Agenesis of the corpus callosum and microcephaly.; Changed rating: GREEN
Fetal anomalies v0.2400 TRAPPC12 Zornitza Stark Deleted their comment
Fetal anomalies v0.2400 TRAPPC12 Zornitza Stark Deleted their comment
Fetal anomalies v0.0 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC12 were set to 28777934; 32347653
Phenotypes for gene: TRAPPC12 were set to Hydrocephaly; Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696