1. Panels
  2. Inflammatory bowel disease
  3. ZAP70
STRs in panel
Prev Next
Regions in panel
Prev Next

Inflammatory bowel disease

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 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment when marking as ready: two families. Insufficient information available about third to be used as evidence.
Created: 11 Mar 2021, 12:59 a.m. | Last Modified: 17 Mar 2021, 10:36 p.m.
Panel Version: 0.50
Created: 11 Mar 2021, 12:59 a.m.
Last Modified: 17 Mar 2021, 10:36 p.m.
Panel version: 0.50

Lavvina Thiyagarajan (Sydney Children's Hospital Network)

I don't know

Three unrelated cases described in the literature. 1) 2 siblings with compound heterozygous missense mutations in ZAP70 2) female infant with homozygous missense mutation in ZAP70 3) individual with VEOIBD and missense mutation in ZAP70 (zygosity not specified in paper, no specific details regarding variant outlined in paper) - PMID: 32819795)
Created: 17 Mar 2021, 11:02 a.m. | Last Modified: 17 Mar 2021, 11:03 a.m.
Panel Version: 0.48

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoimmune disease, multisystem, infantile-onset, 2; inflammatory colitis

Publications

Created: 10 Mar 2021, 10:39 a.m.
Last Modified: 17 Mar 2021, 11:03 a.m.
Panel version: 0.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 2
  • inflammatory colitis
OMIM
176947
Clinvar variants
Variants in ZAP70
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZAP70 were set to 26783323

17 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zap70 has been classified as Red List (Low Evidence).

11 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zap70 has been classified as Red List (Low Evidence).

10 Mar 2021, Gel status: 0

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

Lavvina Thiyagarajan (Sydney Children's Hospital Network)

gene: ZAP70 was added gene: ZAP70 was added to Inflammatory bowel disease. Sources: Other Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZAP70 were set to 26783323 Phenotypes for gene: ZAP70 were set to Autoimmune disease, multisystem, infantile-onset, 2; inflammatory colitis Penetrance for gene: ZAP70 were set to Complete Review for gene: ZAP70 was set to AMBER