Mitochondrial disease
Gene: NDUFB7EnsemblGeneIds (GRCh38): ENSG00000099795
EnsemblGeneIds (GRCh37): ENSG00000099795
OMIM: 603842, Gene2Phenotype
NDUFB7 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135
Bryony Thompson (Royal Melbourne Hospital)
Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly.
Sources: LiteratureCreated: 9 Apr 2021, 3:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital lactic acidosis; hypertrophic cardiomyopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Congenital lactic acidosis
- hypertrophic cardiomyopathy
- OMIM
- 603842
- Clinvar variants
- Variants in NDUFB7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NDUFB7 was added gene: NDUFB7 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB7 were set to 33502047; 27626371 Phenotypes for gene: NDUFB7 were set to Congenital lactic acidosis; hypertrophic cardiomyopathy Review for gene: NDUFB7 was set to AMBER