Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Prepair 1000+ v1.3 TWNK Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) for gene: TWNK
Prepair 1000+ v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)