Mitochondrial disease
Gene: NDUFA1

NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)
EnsemblGeneIds (GRCh38): ENSG00000125356
EnsemblGeneIds (GRCh37): ENSG00000125356
OMIM: 300078, Gene2Phenotype
NDUFA1 is in 10 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

3 unrelated boys (variants absent in gnomAD)

NOTE: gly32Arg was reported in 1 family with 2 affected males and 1 unrelated 'mildly affected' female but there is 408 hemizygotes in gnomAD
Created: 31 Jan 2022, 12:06 a.m. | Last Modified: 31 Jan 2022, 12:06 a.m.

Panel Version: 0.10812

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mitochondrial complex I deficiency, nuclear type 12 MIM#301020

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Jan 2022, 12:06 a.m.
Last Modified: 31 Jan 2022, 12:06 a.m.
Panel version: Imported from Mendeliome panel version 0.10812

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship
Expert Review Green

OMIM

300078

Clinvar variants

Variants in NDUFA1

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFA1 was added gene: NDUFA1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFA1 was set to Unknown

Mitochondrial disease Gene: NDUFA1