Combined Immunodeficiency
Gene: TAP1

TAP1 (transporter 1, ATP binding cassette subfamily B member)
EnsemblGeneIds (GRCh38): ENSG00000168394
EnsemblGeneIds (GRCh37): ENSG00000168394
OMIM: 170260, Gene2Phenotype
TAP1 is in 4 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

12 individuals from 9 unrelated families have been reported with TAP1 variants resulting in BLS type 1 phenotype; two mouse models

Homozygous (insertion, frameshift, splice site) variants have been identified, generating premature STOP codons that resulted in reduced/ no functional protein.

Most of these patients presented with chronic bacterial infections of the respiratory tract during childhood, reduced CD8+ cells and/or severe chronic cutaneous granulomatous lesions in adolescence or young adulthood.
Created: 16 Aug 2021, 11:21 p.m. | Last Modified: 16 Aug 2021, 11:21 p.m.

Panel Version: 0.328

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bare lymphocyte syndrome, type I MIM#604571; Low CD8; absent MHC I on lymphocytes; vasculitis; pyoderma gangrenosum; skin lesions; recurrent respiratory tract infections; bronchiectasis

Publications

Created: 16 Aug 2021, 11:21 p.m.
Last Modified: 16 Aug 2021, 11:21 p.m.
Panel version: 0.328

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Bare lymphocyte syndrome, type I MIM#604571
Low CD8
absent MHC I on lymphocytes
vasculitis
pyoderma gangrenosum
skin lesions
recurrent respiratory tract infections
bronchiectasis

OMIM

170260

Clinvar variants

Variants in TAP1

Penetrance

None

Publications

Panels with this gene