Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Prepair 500+ v1.722 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Prepair 500+ v1.722 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Prepair 500+ v1.722 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from Joubert syndrome 4, 609583 (3) to Nephronophthisis 1, juvenile MIM#256100; Joubert syndrome 4 MIM#609583; Senior-Loken syndrome-1 MIM#266900
Prepair 500+ v0.0 NPHP1 Seb Lunke gene: NPHP1 was added
gene: NPHP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4, 609583 (3)