Fetal anomalies
Gene: NDUFB11

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

4 reviews

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.

Panel Version: 3.8

On 14 panels, inc. fetal anomalies, DDG2P, IEM, severe paediatric disorders. Associated with ?Mitochondrial complex I deficiency, nuclear type 30 (XL), Linear skin defects with multiple congenital anomalies 3 (XLD). In OMIM MC1DN30: Onset at birth. Neonatal death. Prenatal manifestations: IUGR, premature birth. Notes in R21: 09/08/22 Following clinical review, it was agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.Van Rahden et al. (2015) (PMID: 25772934) reported 2 unrelated girls with linear skin defects of the face and neck at birth, cardiomyopathy, and various other congenital anomalies. One of them had ACC and dilated lateral ventricles on prenatal ultrasound. There was a second affected female pregnancy in the same family with thickened myocardium and pericardial effusion, corpus-callosum dysgenesis, a small cerebellum, and a connection between a lateral ventricle and the cavum septum pellucidum, as well as intrauterine growth retardation (confirmed to have the same variant). The mother was also heterozygous for the variant but unaffacted, with skewed X-inactivation. Also identified on gene agnostic re-analysis of a fetal case tested in the GMS: heterozygous de novo pathogenic variant in a female with ACC, VSD, ventricular hypertrophy, polyhydramnios. Conclusion: due to be upgraded to green on next panel update.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.

Panel Version: 3.8

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021; Linear skin defects with multiple congenital anomalies 3, OMIM:300952

Publications

25772934

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.

Panel Version: 2.10

Comment on list classification: Following clinical review, it was agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Created: 9 Aug 2022, 1:13 p.m. | Last Modified: 9 Aug 2022, 1:13 p.m.

Panel Version: 1.886

Created: 9 Aug 2022, 1:13 p.m.
Last Modified: 9 Aug 2022, 1:13 p.m.
Panel version: 2.10

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs.
Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Currently rated Green on the following other PanelApp panel(s): mitochondrial and childhood cardiomyopathy panels.

Details of review:
Van Rahden et al. (2015) (PMID: 25772934) reported 2 unrelated girls with linear skin defects of the face and neck at birth, cardiomyopathy, and various other congenital anomalies. One of them had ACC and dilated lateral ventricles on prenatal ultrasound. There was a second affected female pregnancy in the same family with thickened myocardium and pericardial effusion, corpus-callosum dysgenesis, a small cerebellum, and a connection between a lateral ventricle and the cavum septum pellucidum, as well as intrauterine growth retardation (confirmed to have the same variant). The mother was also heterozygous for the variant but unaffacted, with skewed X-inactivation.

Also identified on gene agnostic re-analysis of a fetal case tested in the GMS: heterozygous de novo pathogenic variant in a female with ACC, VSD, ventricular hypertrophy, polyhydramnios.
Created: 1 Aug 2022, 6:02 p.m. | Last Modified: 1 Aug 2022, 6:02 p.m.

Panel Version: 1.880

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Linear skin defects; cardiomyopathy; ACC

Publications

PMID: 25772934

Created: 1 Aug 2022, 6:02 p.m.
Last Modified: 1 Aug 2022, 6:02 p.m.
Panel version: 1.880

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

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

NHS GMS
Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021
Linear skin defects with multiple congenital anomalies 3, OMIM:300952
Cardiomyopathy
Agenesis of corpus callosum (ACC)

OMIM

300403

Clinvar variants

Variants in NDUFB11

Penetrance

None

Publications

25772934

Panels with this gene