Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Prepair 1000+ v1.3 RP2 Seb Lunke Added phenotypes Retinitis pigmentosa 2, 312600 (3) for gene: RP2
Prepair 1000+ v1.3 LRP2 Seb Lunke Added phenotypes Donnai-Barrow syndrome, 222448 (3) for gene: LRP2
Prepair 1000+ v0.0 RP2 Zornitza Stark gene: RP2 was added
gene: RP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3)
Prepair 1000+ v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)