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  3. NCKAP1L
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Autoinflammatory Disorders

Gene: NCKAP1L

Green List (high evidence)
NCKAP1L (NCK associated protein 1 like)
EnsemblGeneIds (GRCh38): ENSG00000123338
EnsemblGeneIds (GRCh37): ENSG00000123338
OMIM: 141180, Gene2Phenotype
NCKAP1L is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 patients 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: 3 Aug 2020, 7:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency; Immune dysregulation; Immunodeficiency 72 with autoinflammation, MIM# 618982

Publications

Created: 3 Aug 2020, 7:48 a.m.

Panel version: Imported from Disorders of immune dysregulation panel version 0.60

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

5 patients from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional of the 4 missense reported were performed.
Sources: Literature
Created: 3 Aug 2020, 5:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency

Publications

Created: 3 Aug 2020, 5:44 a.m.

Panel version: Imported from Disorders of immune dysregulation panel version Imported from Mendeliome panel version 0.3645

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • immunodeficiency 72 with autoinflammation MONDO:0033551
OMIM
141180
Clinvar variants
Variants in NCKAP1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nckap1l has been classified as Green List (High Evidence).

16 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NCKAP1L was added gene: NCKAP1L was added to Autoinflammatory Disorders. Sources: Expert list 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 72 with autoinflammation MONDO:0033551