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Genetic epilepsy syndromes

Gene: NDUFAF2

Green List (high evidence)

NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164182
EnsemblGeneIds (GRCh37): ENSG00000164182
OMIM: 609653, Gene2Phenotype
NDUFAF2 is in 14 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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)

AR mitochondrial complex 1 defic - nuclear type 10. Ogilvie et al, 2005 - severe childhood-onset progressive encephalopathy - no seizures/epilepsy reported. Calvo et al,2010 - 2 patients with reported NDUFAF2 variants - neither reported to have seizures/epilepsy. Barghuti et al, 2008 - 2 unrelated patients - patient 1 had multiple myocolonic seizures in hospital after being found apneic and cyanotic. Patient 2 - seizures/epilepsy not reported as a feature. Koene et al, 2012 - boy with a hom deletion of exons 2-4 - developed epilepsy with generalised seizures.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Phenotypes
Mitochondrial complex I deficiency, nuclear type 10, 618233

Publications

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from amber to green. NDUFAF2 is confirmed to be associated with complex I deficiency on OMIM and listed as a probable causative gene on Gene2Phenotype. Both websites list seizures as a phenotype of the disease.
There are reports (PMID: 18180188, 26795593, 22644603) of 3 unrelated patients diagnosed with Leigh syndrome or mitochondrial complex I deficiency with different NDUFAF2 variants who have seizures.
Created: 28 Nov 2018, 1:07 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this mitochondrial disorder.
Created: 17 Aug 2018, 9:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, MIM#252010

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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NDUFAF2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NDUFAF2.

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

28 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ndufaf2 has been classified as Green List (High Evidence).

28 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ndufaf2 has been classified as Green List (High Evidence).

28 Nov 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: NDUFAF2 were set to

28 Nov 2018, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: NDUFAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2018, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NDUFAF2 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 NDUFAF2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFAF2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NDUFAF2 was created by Sarah Leigh