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Newborns main panel

Gene: TAP2

Green List (high evidence)
TAP2 (transporter 2, ATP binding cassette subfamily B member)
EnsemblGeneIds (GRCh38): ENSG00000204267
EnsemblGeneIds (GRCh37): ENSG00000204267
OMIM: 170261, Gene2Phenotype
TAP2 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
https://search.clinicalgenome.org/kb/genes/HGNC:44 Andrew Gennery PMID: 34280577 - 1 case of both TAP1 and 2 (genes close together) PMID: 36229627 - 1 case PMID: 36227411 - reference 17 cases
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
  • TAP2 related bare lymphocyte syndrome
OMIM
170261
Clinvar variants
Variants in TAP2
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: TAP2 was added gene: TAP2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: TAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAP2 were set to TAP2 related bare lymphocyte syndrome