Mitochondrial disorders
Gene: NDUFB11EnsemblGeneIds (GRCh38): ENSG00000147123
EnsemblGeneIds (GRCh37): ENSG00000147123
OMIM: 300403, Gene2Phenotype
NDUFB11 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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.
Shamima Rahman (UCL Institute of Child Health)
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)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Isolated complex I deficiency
- Linear skin defects with multiple congenital anomalies 3
- histiocytoid cardiomyopathy
- microphthalmia with linear skin defects syndrome
- OMIM
- 300403
- Clinvar variants
- Variants in NDUFB11
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Structural eye disease
- Rare anaemia
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Optic neuropathy
- Fetal anomalies
- Pigmentary skin disorders
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to NDUFB11. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NDUFB11 were set to
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)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)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFB11 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFB11 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen