Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Additional findings_Paediatric v0.2 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2