Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Fetal anomalies v0.4256 NBN Zornitza Stark Deleted their comment
Fetal anomalies v0.4256 NBN Zornitza Stark edited their review of gene: NBN: Changed rating: GREEN
Fetal anomalies v0.4238 NBN Alison Yeung Publications for gene: NBN were set to
Fetal anomalies v0.4237 NBN Alison Yeung Marked gene: NBN as ready
Fetal anomalies v0.4237 NBN Alison Yeung Gene: nbn has been classified as Green List (High Evidence).
Fetal anomalies v0.4237 NBN Alison Yeung Phenotypes for gene: NBN were changed from NIJMEGEN BREAKAGE SYNDROME to Nijmegen breakage syndrome, MIM# 251260
Fetal anomalies v0.4236 NBN Alison Yeung reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 7545870, 2421804, 8914736, 3802554; Phenotypes: Nijmegen breakage syndrome, MIM#251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4236 NBN Alison Yeung Classified gene: NBN as Green List (high evidence)
Fetal anomalies v0.4236 NBN Alison Yeung Gene: nbn has been classified as Green List (High Evidence).
Fetal anomalies v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to NIJMEGEN BREAKAGE SYNDROME