TEST Undiagnosed metabolic disorders
Gene: NDUFA1

NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)
EnsemblGeneIds (GRCh38): ENSG00000125356
EnsemblGeneIds (GRCh37): ENSG00000125356
OMIM: 300078, Gene2Phenotype
NDUFA1 is in 14 panels

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Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Literature

OMIM

300078

Clinvar variants

Variants in NDUFA1

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: NDUFA1 was added gene: NDUFA1 was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NDUFA1 were set to 27604308

TEST Undiagnosed metabolic disorders Gene: NDUFA1

0 reviews

Details

History Filter Activity

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

TEST Undiagnosed metabolic disorders
Gene: NDUFA1