Mitochondrial disease
Gene: NDUFB9

NDUFB9 (NADH:ubiquinone oxidoreductase subunit B9)
EnsemblGeneIds (GRCh38): ENSG00000147684
EnsemblGeneIds (GRCh37): ENSG00000147684
OMIM: 601445, Gene2Phenotype
NDUFB9 is in 3 panels

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

I don't know

PMID: 38129218: Thr144Met, listed as ACMG-P, hom in 1x pt with mito complex I deficiency and leukodystrophy, no functional studies, both parents are het.

This variant has 2 homozygotes in gnomADv4.
Created: 13 Feb 2024, 4:08 a.m. | Last Modified: 13 Feb 2024, 4:08 a.m.

Panel Version: 0.915

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 24, MIM#618245

Publications

38129218

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

Created: 13 Feb 2024, 4:08 a.m.
Last Modified: 13 Feb 2024, 4:08 a.m.
Panel version: 0.915

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family with functional data but no subsequent reports.
Created: 7 Dec 2019, 8:39 a.m. | Last Modified: 7 Dec 2019, 8:39 a.m.

Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 24, MIM#618245

Publications

22200994

Created: 7 Dec 2019, 8:39 a.m.
Last Modified: 7 Dec 2019, 8:39 a.m.
Panel version: 0.23

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Mitochondrial complex I deficiency, nuclear type 24, MIM#618245

OMIM

601445

Clinvar variants

Variants in NDUFB9

Penetrance

None

Publications

Panels with this gene