Mitochondrial disease
Gene: NDUFA12

NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12)
EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 6 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 families reported with homozygous variants in addition to the family reported in 2011.
Created: 9 Apr 2021, 5:35 a.m. | Last Modified: 9 Apr 2021, 5:35 a.m.

Panel Version: 0.594

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 23 MIM#618244

Publications

Created: 9 Apr 2021, 5:35 a.m.
Last Modified: 9 Apr 2021, 5:35 a.m.
Panel version: 0.594

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Created: 3 Feb 2020, 11:04 a.m. | Last Modified: 3 Feb 2020, 11:04 a.m.

Panel Version: 0.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 23 618244

Publications

21617257

Created: 3 Feb 2020, 11:04 a.m.
Last Modified: 3 Feb 2020, 11:04 a.m.
Panel version: 0.75

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Mitochondrial complex I deficiency, nuclear type 23 618244

OMIM

614530

Clinvar variants

Variants in NDUFA12

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Apr 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NDUFA12 were set to 21617257

9 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ndufa12 has been classified as Green List (High Evidence).

3 Feb 2020, Gel status: 1