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Genetic epilepsy syndromes

Gene: NDUFV1

Green List (high evidence)

NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1)
EnsemblGeneIds (GRCh38): ENSG00000167792
EnsemblGeneIds (GRCh37): ENSG00000167792
OMIM: 161015, Gene2Phenotype
NDUFV1 is in 15 panels

5 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 I defic nuclear type 4. Schuelke et al, 1999 - 2 brothers with complex 1 defic and variants in this gene. At the age of 5 month they presented with repeated vomitting and developed strabismus, progressive muscular hypotonia, myoclonic epilepsy and psychomotor regression died at 14 and 17 months. Another boy had sim phenotype including infantile myoclonic epilepsy. Benit et al, 2001 - infant first hospitalised with seizures aged 1, died at 3 - compound het variants. 2 other patients compound het but no seizures. Incecik et al, 2018 - reported a 10 year old with ataxia and NDUFV1 mutation - smmarises in last paparagraph reported cases: 3 (2 familes)/10 (8 families) seizures reported but one of these it was first presentation.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least six variants reported in at least three unrelated cases in which seizures are a phenotypic feature.
Created: 6 Dec 2018, 12:35 p.m.
Comment on list classification: Sufficient variants in unrelated cases displaying seizures.
Created: 6 Dec 2018, 12:34 p.m.

Eleanor Williams (Genomics England Curator)

Publications

Zornitza Stark (Australian Genomics)

Seizures are part of the phenotype of this mitochondrial disorder.
Created: 17 Aug 2018, 10:32 a.m.
Seizures are part of the phenotype of this mitochondrial disorder.
Created: 17 Aug 2018, 10:31 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

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 NDUFV1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NDUFV1.

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

6 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ndufv1 has been classified as Green List (High Evidence).

6 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ndufv1 has been classified as Green List (High Evidence).

6 Dec 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: NDUFV1 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency 252010

6 Dec 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NDUFV1 were set to

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to NDUFV1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFV1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NDUFV1 was created by Sarah Leigh