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Prepair 1000+

Gene: NDUFA10

Green List (high evidence)

NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10)
EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 10 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Three unrelated families reported. Onset in infancy, early death may occur.
Created: 30 Jan 2025, 9:34 p.m. | Last Modified: 30 Jan 2025, 9:34 p.m.
Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 22, MIM#618243

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 22, MIM#618243
OMIM
603835
Clinvar variants
Variants in NDUFA10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa10 has been classified as Green List (High Evidence).

30 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA10 were changed from Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial to Mitochondrial complex I deficiency, nuclear type 22, MIM#618243

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA10 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFA10 was added gene: NDUFA10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA10 were set to Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial