Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Fetal anomalies v0.3731 NPRL3 Zornitza Stark Marked gene: NPRL3 as ready
Fetal anomalies v0.3731 NPRL3 Zornitza Stark Gene: nprl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3731 NPRL3 Zornitza Stark Classified gene: NPRL3 as Green List (high evidence)
Fetal anomalies v0.3731 NPRL3 Zornitza Stark Gene: nprl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3709 NPRL3 Krithika Murali gene: NPRL3 was added
gene: NPRL3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL3 were set to 27173016; 26285051; 33461085
Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3- MIM#617118
Review for gene: NPRL3 was set to GREEN
Added comment: Known association with focal epilepsy (variable penetrance) with focal cortical dysplasia being a reported feature. FCD has the potential to be detected prenatally.
Sources: Literature