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Paediatric or syndromic cardiomyopathy v1.67 NUBPL Ivone Leong commented on gene: NUBPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.66 NUBPL Ivone Leong Source Expert Review Amber was added to NUBPL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.16 NUBPL Ivone Leong commented on gene: NUBPL: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.6 NUBPL Ivone Leong gene: NUBPL was added
gene: NUBPL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, 618242