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Newborns main panel

Gene: TAPBP

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

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 12149238 - 1 case, PMID: 38866210 - 1 case, PMID: 38989814 - 1 case
Created: 31 Dec 2025, 2:28 p.m. | Last Modified: 31 Dec 2025, 2:28 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:28 p.m.
Last Modified: 31 Dec 2025, 2:28 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MHC class I deficiency 3
OMIM
601962
Clinvar variants
Variants in TAPBP
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: TAPBP was added gene: TAPBP was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: TAPBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAPBP were set to MHC class I deficiency 3