Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Ataxia - paediatric v0.0 NHLRC1 Bryony Thompson gene: NHLRC1 was added
gene: NHLRC1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Progressive myoclonic epilepsy 2B, Lafora, 254780; Epilepsy, progressive myoclonic 2B (Lafora) 254780