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Primary immunodeficiency

Gene: NCKAP1L

Green List (high 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)

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

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 Green
Phenotypes
  • Immunodeficiency
  • Immune dysregulation
OMIM
141180
Clinvar variants
Variants in NCKAP1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: NCKAP1L.

4 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to NCKAP1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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