Gastrointestinal epithelial barrier disorders

Gene: ZAP70

Amber List (moderate evidence)

ZAP70 (zeta chain of T-cell receptor associated protein kinase 70)
EnsemblGeneIds (GRCh38): ENSG00000115085
EnsemblGeneIds (GRCh37): ENSG00000115085
OMIM: 176947, Gene2Phenotype
ZAP70 is in 5 panels

4 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: One case study where a variant has been found in a patient with inflammatory colitis. Unable to find any more case studies to support the gene-disease relationship. Given this evidence and the expert review, I have promoted this gene to amber.
Created: 26 Jul 2018, 1:40 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Rated green by expert review, and found in all 4 original sources. Although currently only one family (2 siblings) reported in the literature at present (PMID: 26783323) for the association with infantile autoimmune disorder, there are many functional and other clinical studies to provide evidence that certian variants within ZAP70 that result in activation lead to autoimmunity/inflammatory responses. Most cases reported are in patients with immunodeficiency, and evidence is strong for this association, providing support that if deficiency of the ZAP70 transcription factor can lead to immunodeficiency, upregulation of ZAP70 could result in autoimmunity/inflammatory responses.
Created: 12 Oct 2016, 8:11 a.m.
Comment on mode of pathogenicity: Hypomorphic and activating variants in ZAP70 result in autoimmune/inflammatory responses, whereas loss-of-function variants (ZAP70 deficiency) result in immunodeficiency.
Created: 12 Oct 2016, 8:02 a.m.

Neil shah (GOSH)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. Two variants reported as compound heterozygotes in one family
Created: 6 Sep 2016, 11:27 a.m.
Comment on phenotypes: Variants also reported in Immunodeficiency 48 269840
Created: 6 Sep 2016, 11:25 a.m.

History Filter Activity

26 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: zap70 has been classified as Amber List (Moderate Evidence).

26 Jul 2018, Gel status: 1

Set publications

Olivia Niblock (Genomics England Curator)

Publications for gene: ZAP70 were set to 26783323

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

Added New Source

Olivia Niblock (Genomics England Curator)

ZAP70 was added to Gastrointestinal epithelial barrier disorders panel. Sources: UKGTN

17 Apr 2018, Gel status: 1


Olivia Niblock (Genomics England Curator)

ZAP70 was created by Olivia Niblock