Mitochondrial disorders
Gene: NDUFB11Comment 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)
Victorian Clinical Genetics Services was added to NDUFB11. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Publications for NDUFB11 were set to
Phenotypes for NDUFB11 were set to Isolated complex I deficiency; Linear skin defects with multiple congenital anomalies 3; histiocytoid cardiomyopathy; microphthalmia with linear skin defects syndrome
Mode of inheritance for NDUFB11 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
NDUFB11 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
NDUFB11 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen