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Genetic Epilepsy

Gene: NDUFA11

Red List (low evidence)

NDUFA11 (NADH:ubiquinone oxidoreductase subunit A11)
EnsemblGeneIds (GRCh38): ENSG00000174886
EnsemblGeneIds (GRCh37): ENSG00000174886
OMIM: 612638, Gene2Phenotype
NDUFA11 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Original report of 3 apparently unrelated families: single homozygous variant in all three, suggesting founder effect. Presentation was severe in early infancy, including seizures in some. More recent report of a late-onset myopathy.
Created: 24 Jan 2020, 9:26 a.m. | Last Modified: 24 Jan 2020, 9:26 a.m.
Panel Version: 0.367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 14, MIM#618236

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
OMIM
612638
Clinvar variants
Variants in NDUFA11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236

24 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa11 has been classified as Red List (Low Evidence).

24 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

24 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236

24 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA11 were set to

24 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa11 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFA11 was added gene: NDUFA11 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: NDUFA11 was set to Unknown