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Possible mitochondrial disorder - nuclear genes

Gene: NDUFA13

Amber List (moderate evidence)

NDUFA13 (NADH:ubiquinone oxidoreductase subunit A13)
EnsemblGeneIds (GRCh38): ENSG00000186010
EnsemblGeneIds (GRCh37): ENSG00000186010
OMIM: 609435, Gene2Phenotype
NDUFA13 is in 5 panels

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family (2 sibs) and functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex I deficiency, nuclear type 28, 618249

Publications

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 28, 618249

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 1:52 p.m.
Comment on list classification: As there is only one report so far according to the reviewer, this should be red.
Created: 8 Feb 2016, 2:26 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single report in literature:

two sisters with early onset hypotonia, dyskinesia and sensorial deficiencies, including a severe optic neuropathy
Created: 3 Feb 2016, 5:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 28, 618249
OMIM
609435
Clinvar variants
Variants in NDUFA13
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufa13 has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NDUFA13 was added gene: NDUFA13 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA13 were set to ?Mitochondrial complex I deficiency, nuclear type 28, 618249