Disorders of immune dysregulation
Gene: NCKAP1LEnsemblGeneIds (GRCh38): ENSG00000123338
EnsemblGeneIds (GRCh37): ENSG00000123338
OMIM: 141180, Gene2Phenotype
NCKAP1L is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 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
Michelle Torres (Victorian Clinical Genetics Services)
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: LiteratureCreated: 3 Aug 2020, 5:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Immunodeficiency
- Immune dysregulation
- Immunodeficiency 72 with autoinflammation, MIM# 618982
- OMIM
- 141180
- Clinvar variants
- Variants in NCKAP1L
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NCKAP1L were changed from Immunodeficiency; Immune dysregulation to Immunodeficiency; Immune dysregulation; Immunodeficiency 72 with autoinflammation, MIM# 618982
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nckap1l has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nckap1l has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NCKAP1L was added gene: NCKAP1L was added to Disorders of immune dysregulation. 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 Review for gene: NCKAP1L was set to GREEN