Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Leukodystrophy - paediatric v0.26 MRPS16 Bryony Thompson gene: MRPS16 was added
gene: MRPS16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498
Review for gene: MRPS16 was set to RED
Added comment: No clear link to leukodystrophy reported.
Sources: Expert list