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  3. CYBA
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Gastrointestinal epithelial barrier disorders

Gene: CYBA

Green List (high evidence)
CYBA (cytochrome b-245 alpha chain)
EnsemblGeneIds (GRCh38): ENSG00000051523
EnsemblGeneIds (GRCh37): ENSG00000051523
OMIM: 608508, Gene2Phenotype
CYBA is in 4 panels

4 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: From the expert review and previous curator review, it appears that variants in this gene are linked to gastrointestinal phenotypes alongside main immunological phenotypes as in Chronic granulomatous disease, autosomal, due to deficiency of CYBA
Created: 26 Jul 2018, 10:15 a.m.
Created: 26 Jul 2018, 10:15 a.m.

Panel version: 1.6

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Rated green by Neil Shah (GOSH), and numerous cases with different variants reported in OMIM for the Chronic granulomatous disease, autosomal, due to deficiency of CYBA phenotype.
Created: 10 Oct 2016, 2:25 p.m.
Created: 10 Oct 2016, 2:25 p.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.
Created: 2 Sep 2016, 2:55 p.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690
OMIM
608508
Clinvar variants
Variants in CYBA
Penetrance
None
Publications
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: cyba 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 penetrance, Set publications

Olivia Niblock (Genomics England Curator)

Phenotypes for gene CYBA were set to Early Onset Inflammatory Bowel Disease, Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690 Publications for gene CYBA was set to ['27537055']

17 Apr 2018, Gel status: 1

Set penetrance, Set publications

Olivia Niblock (Genomics England Curator)

Phenotypes for gene CYBA were set to Early Onset Inflammatory Bowel Disease, Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690 Publications for gene CYBA was set to ['27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.']

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

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

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

CYBA was created by Olivia Niblock