Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Prepair 1000+ v1.1568 SMPD1 Lilian Downie Marked gene: SMPD1 as ready
Prepair 1000+ v1.1568 SMPD1 Lilian Downie Gene: smpd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1568 SMPD1 Lilian Downie Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A, 257200 (3) to Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type B, 607616
Prepair 1000+ v1.1567 SMPD1 Lilian Downie Publications for gene: SMPD1 were set to
Prepair 1000+ v1.1566 SMPD1 Cassandra Muller reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26499107; Phenotypes: Niemann-Pick disease, type A, 257200 (3), Niemann-Pick disease, type B, 607616 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 SMPD1 Seb Lunke Added phenotypes Niemann-Pick disease, type A, 257200 (3) for gene: SMPD1
Prepair 1000+ v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, 257200 (3)