Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Fetal anomalies v0.4215 NFIA Zornitza Stark Marked gene: NFIA as ready
Fetal anomalies v0.4215 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Fetal anomalies v0.4215 NFIA Zornitza Stark Classified gene: NFIA as Green List (high evidence)
Fetal anomalies v0.4215 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Fetal anomalies v0.4205 NFIA Krithika Murali gene: NFIA was added
gene: NFIA was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIA were set to 35018717; 33973697; 32926563
Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects - MIM#613735
Review for gene: NFIA was set to GREEN
Added comment: Haploinsufficiency of the NFIA gene causes NFIA-related disorder, which includes brain abnormalities and intellectual disability, with or without urinary tract defects.
Sources: Literature, Expert list