1. Panels
  2. Gastrointestinal epithelial barrier disorders
  3. PIK3CD
STRs in panel
Prev Next
Regions in panel
Prev Next

Gastrointestinal epithelial barrier disorders

Gene: PIK3CD

Amber List (moderate evidence)
PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta)
EnsemblGeneIds (GRCh38): ENSG00000171608
EnsemblGeneIds (GRCh37): ENSG00000171608
OMIM: 602839, Gene2Phenotype
PIK3CD is in 6 panels

4 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: From expert review and internal clinical review, it appears that variants in this gene are more likely to present as a immune system phenotype rather than gastrointestinal.
Taking this into account with the expert review, I am classing this as amber
Created: 25 Jul 2018, 4:08 p.m.
Created: 25 Jul 2018, 4:08 p.m.

Panel version: 0.29

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and curated evidence.
Created: 12 Oct 2016, 4:04 p.m.
Created: 12 Oct 2016, 4:04 p.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.177

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)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P / DD. Four gain of function variants reported, p.Glu1021Lys found in at least 23 individual from 10 unrelated families.
Created: 6 Sep 2016, 10:22 a.m.
Comment on mode of pathogenicity: Activating gain of function variants associated with phenotype
Created: 6 Sep 2016, 10:16 a.m.
Created: 6 Sep 2016, 10:21 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.107

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 14B, autosomal recessive, OMIM:619281
OMIM
602839
Clinvar variants
Variants in PIK3CD
Penetrance
None
Panels with this gene

History Filter Activity

23 Mar 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14B, autosomal recessive, OMIM:619281

23 Mar 2022, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: PIK3CD was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 2

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

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: pik3cd has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

PIK3CD was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

PIK3CD was created by Olivia Niblock