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  3. CYBB
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Gastrointestinal epithelial barrier disorders

Gene: CYBB

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

4 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: With expert review, previous curation and existence of this gene in the main sources, variants in this gene appear to be linked to gastrointestinal phenotypes alongside immunological phenotypes.
Created: 26 Jul 2018, 10:19 a.m.
Created: 26 Jul 2018, 10:19 a.m.

Panel version: 1.7

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:32 a.m.
Created: 14 May 2018, 9:32 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 1.16

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Numerous variants reported
Created: 5 Sep 2016, 6:48 a.m.
Comment on phenotypes: Variants also reported in Immunodeficiency 34, mycobacteriosis, X-linked 300645
Created: 2 Sep 2016, 2:59 p.m.
Created: 2 Sep 2016, 3 p.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.45

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 Green
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Chronic granulomatous disease, X-linked 306400
OMIM
300481
Clinvar variants
Variants in CYBB
Penetrance
None
Panels with this gene

History Filter Activity

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: cybb has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 1

Set mode of inheritance, Set penetrance

Olivia Niblock (Genomics England Curator)

Model of inheritance for gene CYBB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene CYBB were set to Early Onset Inflammatory Bowel Disease, Chronic granulomatous disease, X-linked 306400

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

CYBB was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

CYBB was created by Olivia Niblock