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Genetic Epilepsy

Gene: NDUFS2

Amber List (moderate evidence)

NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)
EnsemblGeneIds (GRCh38): ENSG00000158864
EnsemblGeneIds (GRCh37): ENSG00000158864
OMIM: 602985, Gene2Phenotype
NDUFS2 is in 11 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants associated with respiratory chain complex I deficiency in multiple families.
Created: 21 Mar 2022, 12:04 a.m. | Last Modified: 21 Mar 2022, 12:04 a.m.
Panel Version: 0.11649

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Only one documented report of seizures in this specific mitochondrial condition.
Created: 24 Jan 2020, 10:34 a.m. | Last Modified: 24 Jan 2020, 10:34 a.m.
Panel Version: 0.379

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, MIM#252010

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Mitochondrial complex I deficiency, MIM#252010
OMIM
602985
Clinvar variants
Variants in NDUFS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, MIM#252010 to Mitochondrial complex I deficiency, MIM#252010

24 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufs2 has been classified as Amber List (Moderate Evidence).

24 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, MIM#252010

24 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFS2 were set to

24 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

24 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufs2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFS2 was added gene: NDUFS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFS2 was set to Unknown