Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Leukodystrophy - paediatric v0.0 LYRM7 Bryony Thompson gene: LYRM7 was added
gene: LYRM7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYRM7 were set to 615838; Mitochondrial complex III deficiency, nuclear type 8; leukoencephalopathy and complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle