Paediatric or syndromic cardiomyopathy

Gene: NDUFB11

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.

Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.

Panel Version: 0.16

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)