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Genetic epilepsy syndromes

Gene: NDUFAF4

Amber List (moderate evidence)

NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4)
EnsemblGeneIds (GRCh38): ENSG00000123545
EnsemblGeneIds (GRCh37): ENSG00000123545
OMIM: 611776, Gene2Phenotype
NDUFAF4 is in 9 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Amber ratings from Tracy Lester and Zornitza Stark support the current Amber rating of NDUFAF4.
Created: 8 Oct 2019, 10:06 a.m. | Last Modified: 8 Oct 2019, 10:06 a.m.
Panel Version: 1.363
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 and there are very few disease associated variants in the literature. There is a case report of a child born to consanguinous parents with episodic seizures and Leigh syndrome, PMID 28853723.
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 15, 618237

Publications

Zornitza Stark (Australian Genomics)

I don't know

Seizures are part of the phenotype of this mitochondrial disorder. However, only two families reported.
Created: 17 Aug 2018, 9:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, MIM#252010

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 15, 618237
Tags
watchlist
OMIM
611776
Clinvar variants
Variants in NDUFAF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Oct 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: NDUFAF4 were set to

8 Oct 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15, 618237

8 Oct 2019, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: NDUFAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NDUFAF4.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NDUFAF4.

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

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).

11 Dec 2018, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: NDUFAF4.

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to NDUFAF4. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFAF4 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NDUFAF4 was created by Sarah Leigh