Paediatric or syndromic cardiomyopathy
Gene: NDUFB3
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFB3; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 25, 618246
Comment on list classification: Carl Fratter also confirmed this gene should be promoted from red to green.Created: 7 Mar 2016, 6:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were changed from Mitochondrial complex I deficiency, nuclear type 25, 618246 to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Source Expert Review Amber was added to NDUFB3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
gene: NDUFB3 was added gene: NDUFB3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, 618246