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Combined Immunodeficiency

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 3 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

5 individuals from 4 unrelated families reported with TAP2 variants resulting in BLS type 1; two mouse models

Homozygous missense variants resulting in premature stop codons were identified.

Individuals typically presented with recurrent respiratory bacterial infections and reduced CD8+ cells with granulomatous lesions and/or skin vasculitis.
Created: 17 Aug 2021, 1:19 a.m. | Last Modified: 17 Aug 2021, 1:19 a.m.
Panel Version: 0.328

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis

Publications

Created: 17 Aug 2021, 1:19 a.m.
Last Modified: 17 Aug 2021, 1:19 a.m.
Panel version: 0.328

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • MHC class I deficiency 2, MIM# 620813
  • Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571
  • Low CD8
  • absent MHC I on lymphocytes
  • Vasculitis
  • pyoderma gangrenosum
  • recurrent bacterial/viral respiratory infections
  • bronchiectasis
OMIM
170261
Clinvar variants
Variants in TAP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAP2 were changed from Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis to MHC class I deficiency 2, MIM# 620813; Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis

17 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tap2 has been classified as Green List (High Evidence).

17 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAP2 were changed from to Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis

17 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TAP2 were set to

17 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TAP2 was added gene: TAP2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TAP2 was set to Unknown