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Possible mitochondrial disorder - nuclear genes

Gene: NDUFB3

Green List (high evidence)

NDUFB3 (NADH:ubiquinone oxidoreductase subunit B3)
EnsemblGeneIds (GRCh38): ENSG00000119013
EnsemblGeneIds (GRCh37): ENSG00000119013
OMIM: 603839, Gene2Phenotype
NDUFB3 is in 8 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 25, 618246

Ellen McDonagh (Genomics England Curator)

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: NDUFB3 was added gene: NDUFB3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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