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Inborn errors of metabolism

Gene: NDUFA9

Green List (high evidence)

NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9)
EnsemblGeneIds (GRCh38): ENSG00000139180
EnsemblGeneIds (GRCh37): ENSG00000139180
OMIM: 603834, Gene2Phenotype
NDUFA9 is in 11 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated families with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65).
Created: 23 May 2019, 2:43 p.m.
Comment on phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, 256000 was previously listed for this gene, however, NDUFA9 is not associated with this phenotyped in OMIM.
Created: 23 May 2019, 2:42 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to Amber due to additional reports for 2 cases (see publications).
Created: 29 Mar 2019, 10:55 a.m.

Zornitza Stark (Australian Genomics)

I don't know

Two patients from unrelated families reported in the literature with bi-allelic variants in this gene. Merits Amber?
Created: 31 Aug 2018, 4:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

Red List (low evidence)

PMID: 22114105 only one published case in the literature to date (1 affected) due to homozygous c.962G>C, p.R321P. Variants of NDUFA9 cause affect mitochondrial respiratory chain complex I. On Radboud MENDELIOME/MCA MITOCHONDRIAL DISORDERS panels
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome due to mitochondrial complex I deficiency, 256000

Publications

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 4 Feb 2016, 7:06 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, nuclear type 26, 618247
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
OMIM
603834
Clinvar variants
Variants in NDUFA9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to NDUFA9. Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9 Publications for gene NDUFA9 were changed from 27604308 to 28671271; 22114105 Rating Changed from Red List (low evidence) to Green List (high evidence)

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NDUFA9. Source London North GLH was added to NDUFA9.

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

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: NDUFA9 Publications for gene NDUFA9 were changed from to 27604308

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFA9 was added gene: NDUFA9 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3; Isolated complex I deficiency