Mosaic skin disorders - deep sequencing
Gene: COX7B
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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
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: COX7B; 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: COX7B.
Source Expert Review Removed was added to COX7B. Mode of inheritance for gene COX7B 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) Rating Changed from Green List (high evidence) to No List (delete)
Source London North GLH was added to COX7B.
gene: COX7B was added gene: COX7B was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COX7B were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)