Mosaic skin disorders - deep sequencingGene: NDUFB11
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
Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
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.
Tag curated_removed tag was added to gene: NDUFB11.
Source Expert Review Removed was added to NDUFB11. Rating Changed from Green List (high evidence) to No List (delete)
Source London North GLH was added to NDUFB11.
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)