Rare genetic inflammatory skin disorders
Gene: CYBB
?Phenotypes only associated with carrier females. Affected males have more severe presentation. How to include in panel? Appropriate?Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Chillblain lupus; Discoid lupus erythematosus
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: CYBB; 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, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to CYBB. Added phenotypes Chillblain lupus; Discoid lupus erythematosus for gene: CYBB Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source London North GLH was added to CYBB.
gene: CYBB was added gene: CYBB was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CYBB were set to Chillblain lupus; Discoid lupus erythematosus