Red cell disorders
Gene: NDUFB11EnsemblGeneIds (GRCh38): ENSG00000147123
EnsemblGeneIds (GRCh37): ENSG00000147123
OMIM: 300403, Gene2Phenotype
NDUFB11 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variant shown to be de novo in some of the families, therefore not founder effect.Created: 24 Jun 2021, 11:26 a.m. | Last Modified: 24 Jun 2021, 11:26 a.m.
Panel Version: 0.6
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked sideroblastic anaemia
Publications
Kristin Rigbye (Victorian Clinical Genetics Services)
5 males with a variably syndromic, normocytic CSA. The recurrent p.F93del mutation results in respiratory insufficiency and loss of complex I stability and activity in patient-derived fibroblasts. Targeted introduction of this allele into K562 erythroleukemia cells results in a proliferation defect with minimal effect on erythroid differentiation potential, suggesting the mechanism of anemia in this disorder (PMID: 27488349).Created: 24 Jun 2021, 1:42 a.m. | Last Modified: 24 Jun 2021, 1:42 a.m.
Panel Version: 0.6
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anaemia, XLR
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Phenotypes
-
- X-linked sideroblastic anaemia
- OMIM
- 300403
- Clinvar variants
- Variants in NDUFB11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ndufb11 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NDUFB11 were changed from sideroblastic anaemia to X-linked sideroblastic anaemia
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NDUFB11 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: NDUFB11 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ndufb11 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes sideroblastic anaemia for gene: NDUFB11
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NDUFB11 was added gene: NDUFB11 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH Mode of inheritance for gene: NDUFB11 was set to Unknown Phenotypes for gene: NDUFB11 were set to sideroblastic anaemia