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  3. CYBB
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Rare genetic inflammatory skin disorders

Gene: CYBB

Amber List (moderate evidence)
CYBB (cytochrome b-245 beta chain)
EnsemblGeneIds (GRCh38): ENSG00000165168
EnsemblGeneIds (GRCh37): ENSG00000165168
OMIM: 300481, Gene2Phenotype
CYBB is in 8 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

I don't know

?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

Created: 12 Dec 2019, 3:08 p.m.
Last Modified: 12 Dec 2019, 3:08 p.m.
Panel version: 0.21

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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

Created: 31 Jan 2019, 2:02 p.m.

Panel version: 0.4

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Chillblain lupus
  • Discoid lupus erythematosus
OMIM
300481
Clinvar variants
Variants in CYBB
Penetrance
None
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

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)

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CYBB.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

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