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Genetic Epilepsy

Gene: NDUFS1

Amber List (moderate evidence)

NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1)
EnsemblGeneIds (GRCh38): ENSG00000023228
EnsemblGeneIds (GRCh37): ENSG00000023228
OMIM: 157655, Gene2Phenotype
NDUFS1 is in 13 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 9 unrelated families reported with supportive functional evidence. Developmental regression, dystonia, spasticity, respiratory issues and cerebral white matter anomalies including involvement of the corpus callosum reported.
Created: 20 Mar 2022, 11:22 p.m. | Last Modified: 20 Mar 2022, 11:22 p.m.
Panel Version: 0.11649

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Seizures or seizure-like events only reported in a low number of individuals with this specific mitochondrial condition.
Created: 24 Jan 2020, 9:29 p.m. | Last Modified: 24 Jan 2020, 9:29 p.m.
Panel Version: 0.389

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, MIM#252010

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
157655
Clinvar variants
Variants in NDUFS1
Penetrance
None
Panels with this gene

History Filter Activity

24 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufs1 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: NDUFS1 were changed from to Mitochondrial complex I deficiency, MIM#252010

24 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFS1 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: ndufs1 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: NDUFS1 was added gene: NDUFS1 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: NDUFS1 was set to Unknown