Mitochondrial disorder with complex I deficiency

Gene: NDUFB11

Green List (high evidence)

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; 25921236

Created: 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.

Green List (high evidence)

heterozygous mutations identified in MLS-affected females;

de novo non-sense mutations reported in two female probands with histiocytoid cardiomyopathy

Created: 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)