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Genetic epilepsy syndromes

Gene: NDUFAF3

Amber List (moderate evidence)

NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000178057
EnsemblGeneIds (GRCh37): ENSG00000178057
OMIM: 612911, Gene2Phenotype
NDUFAF3 is in 11 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: Alison Callaway and John Taylor. Suggested gene rating: Amber.
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)

I don't know

better tested through the mito panel. Mitochondrial disorders can associated with seizures, but the evidence is not specifically implicated. There is a case report of a compound heterozygote child with myoclonic seizures and complex I deficiency, PMID 19463891.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency nuclear type 18, 618240

Publications

Eleanor Williams (Genomics England Curator)

Comment on list classification: There are 3 cases supporting the association of NDUFAF3 with Mitochondrial complex I deficiency, but only two cases with seizures to date so keeping this gene Amber until further cases verify the association with seizures.
Created: 5 Dec 2018, 8:30 p.m.
Associated with Mitochondrial complex I deficiency in OMIM but not Gene2Phenotype.

PMID: 19463981 (Saada et al. 2009) report 5 patients from 3 families with severe mitochondrial complex I deficiency and lactic acidosis with homozygous or compound heterozygous mutations in the NDUFAF3 gene (3 variants). All patients died before age 6 months. Seizures were observed in 2 individuals from unrelated families. Functional studies show that NDUFAF3 is required for complex I assembly, but the effect of specific mutations was not examined.
Created: 5 Dec 2018, 8:27 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this mitochondrial disorder.
Created: 17 Aug 2018, 9:38 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: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NDUFAF3.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NDUFAF3.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

5 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).

5 Dec 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency 252010

5 Dec 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NDUFAF3 were set to

5 Dec 2018, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: NDUFAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal

5 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to NDUFAF3. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFAF3 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NDUFAF3 was created by Sarah Leigh