Mitochondrial disorder with complex I deficiency
Gene: NDUFB11
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFB11; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
?Mitochondrial complex I deficiency, nuclear type 30, 301021; Linear skin defects with multiple congenital anomalies 3, 300952
Comment on publications: PMID: 25772934; 25921236Created: 2 Mar 2016, 1:27 p.m.
Comment on mode of inheritance: X-linked dominant, and de novo mutations reported.Created: 2 Mar 2016, 1:25 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a probable DD gene for microphthalmia with linear skin defects syndrome. Publications include 4 unrelated cases (all of which displayed a cardiomyopathy aspect to their phenotype).
Created: 2 Mar 2016, 1:24 p.m.
heterozygous mutations identified in MLS-affected females;
de novo non-sense mutations reported in two female probands with histiocytoid cardiomyopathyCreated: 4 Feb 2016, 1:56 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
gene: NDUFB11 was added gene: NDUFB11 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NDUFB11 were set to ?Mitochondrial complex I deficiency, nuclear type 30, 301021; Linear skin defects with multiple congenital anomalies 3, 300952