Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Paediatric or syndromic cardiomyopathy v1.79 FASTKD2 Arina Puzriakova Phenotypes for gene: FASTKD2 were changed from ?Mitochondrial complex IV deficiency, 220110 to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Paediatric or syndromic cardiomyopathy v0.16 FASTKD2 Ivone Leong edited their review of gene: FASTKD2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.15 FASTKD2 Ivone Leong Source Expert Review Amber was added to FASTKD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.6 FASTKD2 Ivone Leong gene: FASTKD2 was added
gene: FASTKD2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 28499982
Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110