Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Fetal anomalies v0.361 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Fetal anomalies v0.361 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.361 C8orf37 Zornitza Stark Phenotypes for gene: C8orf37 were changed from CONE-ROD DYSTROPHY 16 to Bardet-Biedl syndrome 21, MIM#617406
Fetal anomalies v0.360 C8orf37 Zornitza Stark Publications for gene: C8orf37 were set to
Fetal anomalies v0.359 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Fetal anomalies v0.359 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.358 C8orf37 Zornitza Stark changed review comment from: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies.
Sources: Expert list; to: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies, which would not be detectable antenatally.
Sources: Expert list
Fetal anomalies v0.0 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8orf37 were set to CONE-ROD DYSTROPHY 16