Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Additional findings_Paediatric v0.2 FHL1 Zornitza Stark Source BabySeq Category C gene was added to FHL1.
Source Expert Review Red was added to FHL1.
Added phenotypes Myofibrillar myopathy for gene: FHL1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 FHL1 Zornitza Stark Added phenotypes Emery-Dreifuss muscular dystrophy for gene: FHL1
Additional findings_Paediatric v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy