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Genetic epilepsy syndromes

Gene: NDUFA1

Green List (high evidence)

NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)
EnsemblGeneIds (GRCh38): ENSG00000125356
EnsemblGeneIds (GRCh37): ENSG00000125356
OMIM: 300078, Gene2Phenotype
NDUFA1 is in 14 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that MOI should be updated from XLR to XLD.
Created: 25 Nov 2019, 9:18 p.m. | Last Modified: 25 Nov 2019, 9:18 p.m.
Panel Version: 1.468
Comment on mode of inheritance: There is a case of female with variant and symptoms in PMID:21596602. (Mayr et al., 2011), but she does not have epilepsy but rather a metabolic defect. Therefore XLD is appropriate for metabolism panel but MOI is kept as XLR on this epilepsy panel for now.
Created: 13 Aug 2019, 1:26 p.m. | Last Modified: 13 Aug 2019, 1:26 p.m.
Panel Version: 1.211
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

XLR mitochondrial complex 1 defic - nuclear type 12. Fernandez-Moreira et al, 2007 - 2 unrelated Spanish patients - diff hemizyogus mutations identified, one had myoclonic epilepsy the other did not (this one also had an aff borther - IVF treatment diff dads). Potluri et al, 2009 - 2 first cousin males mat related - both had seizures amongst other features - hemizygous missense variant. Mayr et al, 2011 - also found a female het for this female with a very mild form of disease - no epilepsy - skewed X-inactivation reported. Bindu et al, 2018 - patient reported with hem missense variant - had epilepsy.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Mitochondrial complex I deficiency, nuclear type 12, 301020

Publications

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from amber to green. Both OMIM and Gene2Phenotype confirm that NDUFA1 is associated with Mitochondrial complex I deficiency and seizures is listed on both databases as a phenotype. There are three papers (PMID: 17262856,19185523, 29272804) reporting on 4 individuals with variants in the NDUFA1 gene and have seizures. There are currently 2 different NDUFA1 variants reported that are associated with Mitochondrial complex I deficiency.
Created: 27 Nov 2018, 4:24 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this mitochondrial disorder.
Created: 17 Aug 2018, 9:21 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mitochondrial complex I deficiency, MIM#252010

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, 252010
OMIM
300078
Clinvar variants
Variants in NDUFA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: NDUFA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

13 Aug 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: NDUFA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NDUFA1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NDUFA1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

27 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ndufa1 has been classified as Green List (High Evidence).

27 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ndufa1 has been classified as Green List (High Evidence).

27 Nov 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: NDUFA1 were set to

27 Nov 2018, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: NDUFA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

26 Nov 2018, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, 252010

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to NDUFA1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFA1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NDUFA1 was created by Sarah Leigh