Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NCKAP1L
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
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: LiteratureCreated: 4 Aug 2020, 10:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency; Immune dysregulation
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: NCKAP1L.
Source Expert Review Green was added to NCKAP1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: NCKAP1L were set to 32647003
Gene: nckap1l has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: NCKAP1L.
gene: NCKAP1L was added gene: NCKAP1L was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCKAP1L were set to 32647003 Phenotypes for gene: NCKAP1L were set to Immunodeficiency; Immune dysregulation gene: NCKAP1L was marked as current diagnostic