Inborn errors of metabolismGene: NDUFB7
Comment on phenotypes: No OMIM or MONDO phenotype (21/4/2021)
Created: 21 Apr 2021, 1:01 p.m. | Last Modified: 21 Apr 2021, 1:01 p.m.
Panel Version: 2.124
Comment on list classification: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one biallelic splicing variant reported. RNA sequencing revealed that this variant disrupted normal splicing (PMID 33502047) and human knock-out cells have shown that NDUFB7 is one of the subunits strictly required for assembly of a functional mitochondrial complex I subunit, which is essential for cell viability (PMID 27626371).
Created: 21 Apr 2021, 12:57 p.m. | Last Modified: 21 Apr 2021, 12:57 p.m.
Panel Version: 2.122
no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)
Created: 4 Feb 2016, 8:26 p.m.
Phenotypes for gene: NDUFB7 were changed from No OMIM phenotype; Isolated complex I deficiency to Congenital lactic acidosis; hypertrophic cardiomyopathy
Mode of inheritance for gene: NDUFB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tag watchlist tag was added to gene: NDUFB7.
Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Publications for gene: NDUFB7 were set to 33502047; 27626371
Publications for gene: NDUFB7 were set to
Sarah Leigh: Associated with phenotype in O
gene: NDUFB7 was added gene: NDUFB7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB7 was set to Unknown Phenotypes for gene: NDUFB7 were set to No OMIM phenotype; Isolated complex I deficiency