Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Cardiomyopathy_Paediatric v0.182 FHL2 Zornitza Stark Marked gene: FHL2 as ready
Cardiomyopathy_Paediatric v0.182 FHL2 Zornitza Stark Gene: fhl2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.182 FHL2 Zornitza Stark Classified gene: FHL2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.182 FHL2 Zornitza Stark Gene: fhl2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.181 FHL2 Zornitza Stark gene: FHL2 was added
gene: FHL2 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FHL2 were set to 36854411; 25358972
Phenotypes for gene: FHL2 were set to Cardiomyopathy, MONDO:0004994, FHL2-related
Review for gene: FHL2 was set to AMBER
Added comment: Emerging evidence that variants in this gene may be associated with cardiomyopathy.

Reports of HCM and DCM.

c.391C>T (p.Arg131Cys) may be recurrent in early-onset DCM.
Sources: Expert Review