Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: NCKAP1L

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.

Panel Version: 2.529

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least six unrelated families with distinct variants in this gene presenting the relevant phenotype.

Created: 11 Aug 2020, 2:07 p.m. | Last Modified: 11 Aug 2020, 2:07 p.m.

Panel Version: 2.182

PMID: 32647003 (2020) - Five patients from four unrelated families with immunodeficiency coupled with atopy, lymphoproliferation, and cytokine overproduction harbouring biallelic variants in NCKAP1L. Some supporting functional studies using patient cells.

PMID: 32766723 (2020) - Two unrelated patients with immunodeficiency, lymphoproliferation, and hyperinflammation with features of hemophagocytic lymphohistiocytosis, associated with biallelic NCKAP1L variants. Includes supportive functional data using patient cells and a zebrafish model.

Created: 11 Aug 2020, 2:04 p.m. | Last Modified: 11 Aug 2020, 2:04 p.m.

Panel Version: 2.181

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency

Publications

• 32647003
• 32766723

Green List (high evidence)

5 individuals from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional studies of the 4 missense reported were performed.
Sources: Literature

Created: 4 Aug 2020, 10:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency; Immune dysregulation

Publications

• 32647003

Variants in this GENE are reported as part of current diagnostic practice