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Severe Paediatric Disorders

Gene: NDUFB11

Green List (high evidence)

NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11)
EnsemblGeneIds (GRCh38): ENSG00000147123
EnsemblGeneIds (GRCh37): ENSG00000147123
OMIM: 300403, Gene2Phenotype
NDUFB11 is in 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NDUFB11; Recommended initial gene rating: Green List (high evidence); Phenotypes: Linear skin defects with multiple congenital anomalies 3, 300952 (3) | ?Mitochondrial complex I deficiency, nuclear type 30, 301021 (3); Mode of inheritance: X-linked dominant | X-linked
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

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
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Linear skin defects with multiple congenital anomalies 3, 300952
  • ?Mitochondrial complex I deficiency, nuclear type 30, 301021
OMIM
300403
Clinvar variants
Variants in NDUFB11
Penetrance
None
Publications
Panels with this gene