Mitochondrial disorders
Gene: NDUFB7Comment on phenotypes: No OMIM or MONDO phenotype (21/4/2021)Created: 21 Apr 2021, 1 p.m. | Last Modified: 21 Apr 2021, 1 p.m.
Panel Version: 2.31
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, 12:53 p.m. | Last Modified: 21 Apr 2021, 12:53 p.m.
Panel Version: 2.29
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.Created: 17 Apr 2021, 7:46 a.m. | Last Modified: 17 Apr 2021, 7:46 a.m.
Panel Version: 2.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital lactic acidosis; hypertrophic cardiomyopathy
Publications
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 Congenital lactic acidosis; hypertrophic cardiomyopathy to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Phenotypes for gene: NDUFB7 were changed from Isolated complex I deficiency; No OMIM phenotype to Congenital lactic acidosis; hypertrophic cardiomyopathy
Tag watchlist tag was added to gene: NDUFB7.
Mode of inheritance for gene: NDUFB7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Publications for gene: NDUFB7 were set to
NDUFB7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
NDUFB7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen