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Newborns main panel

Gene: TAP1

Green List (high evidence)
TAP1 (transporter 1, ATP binding cassette subfamily B member)
EnsemblGeneIds (GRCh38): ENSG00000168394
EnsemblGeneIds (GRCh37): ENSG00000168394
OMIM: 170260, Gene2Phenotype
TAP1 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:43 Andrew Gennery PMID: 34280577 -1 case of both TAP1 and 2 (genes close together) PMID: 34280577 - 1 case of TAP1. PMID: 30189467 - references 14 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
  • TAP1 related bare lymphocyte syndrome
OMIM
170260
Clinvar variants
Variants in TAP1
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: TAP1 was added gene: TAP1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: TAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAP1 were set to TAP1 related bare lymphocyte syndrome