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  3. NDUFA11
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Cardiomyopathy_Paediatric

Gene: NDUFA11

Amber List (moderate 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)

I don't know

Original report of 3 apparently unrelated families: single homozygous variant in all three, suggesting founder effect. Presentation was severe in early infancy, including with HCM. More recent report of a late-onset myopathy and compound het variants.
Created: 18 Feb 2022, 5:02 a.m. | Last Modified: 18 Feb 2022, 5:02 a.m.
Panel Version: 0.121

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 18 Feb 2022, 5:02 a.m.
Last Modified: 18 Feb 2022, 5:02 a.m.
Panel version: 0.121

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 14, 618236
OMIM
612638
Clinvar variants
Variants in NDUFA11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa11 has been classified as Amber List (Moderate Evidence).

18 Feb 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA11 were set to

18 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa11 has been classified as Amber List (Moderate Evidence).

28 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFA11 was added gene: NDUFA11 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236