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Inborn errors of metabolism

Gene: NDUFB3

Green List (high evidence)

NDUFB3 (NADH:ubiquinone oxidoreductase subunit B3)
EnsemblGeneIds (GRCh38): ENSG00000119013
EnsemblGeneIds (GRCh37): ENSG00000119013
OMIM: 603839, Gene2Phenotype
NDUFB3 is in 7 panels

2 reviews

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial complex I deficiency, 252010
  • Isolated complex I deficiency
OMIM
603839
Clinvar variants
Variants in NDUFB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Added phenotypes Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency for gene: NDUFB3

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NDUFB3. Source London North GLH was added to NDUFB3.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial complex I deficiency, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFB3 Publications for gene NDUFB3 were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFB3 was added gene: NDUFB3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency