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Fetal anomalies

Gene: NDUFA1

Red List (low evidence)

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)

Red List (low 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

For this panel: main features include nystamus and neurological features, which are not detectable antenatally. Onset within first year of life
Created: 31 Jan 2022, 12:09 a.m. | Last Modified: 31 Jan 2022, 12:09 a.m.
Panel Version: 0.2948

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
OMIM
300078
Clinvar variants
Variants in NDUFA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa1 has been classified as Red List (Low Evidence).

1 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA1 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020

1 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA1 were set to

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFA1 was added gene: NDUFA1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY