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Primary immunodeficiency

Gene: NCKAP1L

Amber List (moderate evidence)

NCKAP1L (NCK associated protein 1 like)
EnsemblGeneIds (GRCh38): ENSG00000123338
EnsemblGeneIds (GRCh37): ENSG00000123338
OMIM: 141180, Gene2Phenotype
NCKAP1L is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency
  • Immune dysregulation
Tags
for-review
OMIM
141180
Clinvar variants
Variants in NCKAP1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NCKAP1L were set to 32647003

11 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nckap1l has been classified as Amber List (Moderate Evidence).

11 Aug 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: NCKAP1L.

4 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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