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Paediatric or syndromic cardiomyopathy v3.9 NDUFS1 Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, 618226 to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Paediatric or syndromic cardiomyopathy v1.67 NDUFS1 Ivone Leong commented on gene: NDUFS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.66 NDUFS1 Ivone Leong Source Expert Review Amber was added to NDUFS1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.16 NDUFS1 Ivone Leong commented on gene: NDUFS1: 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 NDUFS1 Ivone Leong gene: NDUFS1 was added
gene: NDUFS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, 618226