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Prepair 1000+

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 4 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

MHC class I deficiency-1 is an immunologic disorder characterized by the onset of recurrent and chronic bacterial sinobronchial infections in the first or second decades of life, usually with progression to bronchiectasis. Nasal polyps are commonly observed, and chronic necrotizing granulomatous lesions affecting the nasal cavity, upper respiratory tract, and/or skin, which can be severe, may develop later (~50% of patients). Patient cells have decreased or absent expression of MHC type I antigens on the cell surface, hence the name bare lymphocyte syndrome type I (BLS type I). Some patients may be asymptomatic.
Severe viral infections do not occur.
>5 unrelated families reported.
Created: 2 Jan 2025, 3:58 a.m. | Last Modified: 2 Jan 2025, 3:58 a.m.
Panel Version: 1.984

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MHC class I deficiency 1, MIM #604571

Publications

Created: 2 Jan 2025, 3:58 a.m.
Last Modified: 2 Jan 2025, 3:58 a.m.
Panel version: 1.984

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • MHC class I deficiency 1, MIM #604571
OMIM
170260
Clinvar variants
Variants in TAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tap1 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAP1 were changed from Bare lymphocyte syndrome, type I, 604571 (3) to MHC class I deficiency 1, MIM #604571

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TAP1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TAP1 was added gene: TAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAP1 were set to Bare lymphocyte syndrome, type I, 604571 (3)