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  3. NDUFB11
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Structural eye disease

Gene: NDUFB11

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

van Rahden: gene is associated with Microphthalmia with linear skin defects syndrome - however both cases reported do not have structural eye anomalies, one has lacrimal duct agenesis. No other papers report structural eye anomalies
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

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
  • Expert Review Red
  • NHS GMS
  • London North GLH
Phenotypes
  • Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3, 300952
OMIM
300403
Clinvar variants
Variants in NDUFB11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2021, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: NDUFB11 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

1 Oct 2019, Gel status: 1

Added New Source, Added New Source, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NDUFB11. Source Expert Review Red was added to NDUFB11. Publications for gene NDUFB11 were changed from to 25772934 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to NDUFB11. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: NDUFB11 was added gene: NDUFB11 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFB11 were set to Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3, 300952