Rare anaemia
Gene: NDUFB11
NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11)
EnsemblGeneIds (GRCh38): ENSG00000147123
EnsemblGeneIds (GRCh37): ENSG00000147123
OMIM: 300403, Gene2Phenotype
NDUFB11 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000147123
EnsemblGeneIds (GRCh37): ENSG00000147123
OMIM: 300403, Gene2Phenotype
NDUFB11 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NDUFB11; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: not submitted ; Phenotypes: sideroblastic anaemia; PMID(s): none submittedCreated: 6 Feb 2019, 12:14 p.m.
Carl Fratter (Oxford University Hospitals NHS Trust)
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 12:13 p.m.
Details
- Sources
-
- NHS GMS
- Expert Review Amber
- Wessex and West Midlands GLH
- Phenotypes
-
- sideroblastic anaemia
- OMIM
- 300403
- Clinvar variants
- Variants in NDUFB11
- Penetrance
- None
- 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
6 Feb 2019, Gel status: 2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NDUFB11.
6 Feb 2019, Gel status: 2
Added New Source, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to NDUFB11. Added phenotypes sideroblastic anaemia for gene: NDUFB11 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
6 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: NDUFB11 was added gene: NDUFB11 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: NDUFB11 was set to