Combined Immunodeficiency
Gene: TAPBP

TAPBP (TAP binding protein)
EnsemblGeneIds (GRCh38): ENSG00000231925
EnsemblGeneIds (GRCh37): ENSG00000231925
OMIM: 601962, Gene2Phenotype
TAPBP is in 2 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Now 2 cases reported with homozygous LoF variants (7.4-kb deletion & c.312del).
Created: 10 Nov 2024, 4:46 a.m. | Last Modified: 10 Nov 2024, 4:46 a.m.

Panel Version: 1.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MHC class I deficiency MONDO:0011476

Publications

Created: 10 Nov 2024, 4:46 a.m.
Last Modified: 10 Nov 2024, 4:46 a.m.
Panel version: 1.89

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported, also note 7.4-kb deletion, encompassing exons 4 through 7 rather than SNV.
Created: 11 Apr 2020, 10:55 a.m. | Last Modified: 11 Apr 2020, 10:55 a.m.

Panel Version: 0.131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bare lymphocyte syndrome, type I, MIM# 604571; MHC class I deficiency 3, MIM# 620814

Publications

12149238

Created: 11 Apr 2020, 10:55 a.m.
Last Modified: 11 Apr 2020, 10:55 a.m.
Panel version: 1.62

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Bare lymphocyte syndrome, type I, MIM# 604571
MHC class I deficiency 3, MIM# 620814

Tags

SV/CNV

OMIM

601962

Clinvar variants

Variants in TAPBP

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: TAPBP were set to 12149238

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

23 May 2024, Gel status: 1