Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v1.360 TOGARAM1 Zornitza Stark Phenotypes for gene: TOGARAM1 were changed from Cerebral dysgenesis; Cleft of the lip and palate; Hydrocephalus; Microphthalmia to Joubert syndrome 37, MIM# 619185
Fetal anomalies v1.359 TOGARAM1 Zornitza Stark Classified gene: TOGARAM1 as Green List (high evidence)
Fetal anomalies v1.359 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Fetal anomalies v1.358 TOGARAM1 Zornitza Stark edited their review of gene: TOGARAM1: Added comment: PMID 32453716: 5 unrelated individuals with Joubert syndrome.; Changed rating: GREEN; Changed publications: 32747439, 32453716; Changed phenotypes: Joubert syndrome 37, MIM# 619185
Fetal anomalies v0.2813 TOGARAM1 Zornitza Stark Marked gene: TOGARAM1 as ready
Fetal anomalies v0.2813 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.0 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439
Phenotypes for gene: TOGARAM1 were set to Cerebral dysgenesis; Cleft of the lip and palate; Hydrocephalus; Microphthalmia