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Inborn errors of metabolism

Gene: NDUFA13

Red List (low evidence)

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

4 reviews

Catherine Snow (Genomics England)

Red List (low evidence)

No further variants have been reported in the literature to date (21/10/2019).
Created: 21 Oct 2019, 3:14 p.m. | Last Modified: 21 Oct 2019, 3:14 p.m.
Panel Version: 1.373

Ivone Leong (Genomics England Curator)

As there is only one reported case in the literature, there is currently not enough evidence to promote this gene to green status. Therefore, until further evidence is available this gene will remain a red gene.
Created: 2 May 2019, 2:13 p.m.
Comment on phenotypes: Removed "{Thyroid carcinoma, Hurthle cell}, 607464" from phenotypes as this phenotype is not relevant to this panel.
Created: 2 May 2019, 2:05 p.m.

Ellen McDonagh (Genomics England Curator)

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 Red
Phenotypes
  • Mitochondrial Diseases
  • {Thyroid carcinoma, Hurthle cell}, 607464
  • Isolated complex I deficiency
OMIM
609435
Clinvar variants
Variants in NDUFA13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Oct 2019, Gel status: 1

Set publications

Catherine Snow (Genomics England)

Publications for gene: NDUFA13 were set to

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFA13 was added gene: NDUFA13 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA13 were set to Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency