Pigmentary skin disorders

Gene: NDUFB11

Amber List (moderate evidence)

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

3 reviews

Arina Puzriakova (Genomics England Curator)

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time.
Created: 9 Mar 2022, 2:35 p.m. | Last Modified: 9 Mar 2022, 2:35 p.m.
Panel Version: 1.42

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (probable). There is currently only 2 published cases of patients with Linear skin defects with multiple congenital anomalies 3. This gene is also associated with Histiocytoid cardiomyopathy and Lactic acidosis and sideroblastic anemia and patients with these diseases do not have signs of skin defects. Therefore, there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 29 Nov 2021, 3:55 p.m. | Last Modified: 29 Nov 2021, 3:55 p.m.
Panel Version: 1.26

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

XLD - lethal in males
Sources: Other
Created: 21 Oct 2021, 4:06 p.m.

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 with Multiple Congenital Anomalies

Publications

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 Amber
Phenotypes
  • Linear skin defects with multiple congenital anomalies 3, OMIM:300952
OMIM
300403
Clinvar variants
Variants in NDUFB11
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 2

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_expert_review was removed from gene: NDUFB11. Tag Q4_21_NHS_review was removed from gene: NDUFB11.

29 Nov 2021, Gel status: 2

Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_expert_review tag was added to gene: NDUFB11. Tag Q4_21_NHS_review tag was added to gene: NDUFB11.

29 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ndufb11 has been classified as Amber List (Moderate Evidence).

29 Nov 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NDUFB11 were changed from Linear Skin Defects with Multiple Congenital Anomalies to Linear skin defects with multiple congenital anomalies 3, OMIM:300952

21 Oct 2021, Gel status: 0

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

Tom Cullup (Great Ormond Street Hospital)

gene: NDUFB11 was added gene: NDUFB11 was added to Pigmentary skin disorders. Sources: Other Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NDUFB11 were set to 33670341 Phenotypes for gene: NDUFB11 were set to Linear Skin Defects with Multiple Congenital Anomalies Penetrance for gene: NDUFB11 were set to unknown Review for gene: NDUFB11 was set to GREEN