Mosaic skin disorders - deep sequencing
Gene: NDUFB11EnsemblGeneIds (GRCh38): ENSG00000147123
EnsemblGeneIds (GRCh37): ENSG00000147123
OMIM: 300403, Gene2Phenotype
NDUFB11 is in 14 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Expression mosaicism, rather than genomic mosaicism, therefore not appropriate for panel. Important to ensure testing available for these conditions via an alterative pathway.Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: NDUFB11; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:50 p.m.
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 Removed
- London North GLH
- NHS GMS
- Phenotypes
-
- Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
- Tags
- 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
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: NDUFB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: NDUFB11.
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Removed was added to NDUFB11. Rating Changed from Green List (high evidence) to No List (delete)
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to NDUFB11.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: NDUFB11 was added gene: NDUFB11 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NDUFB11 were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)