Combined Immunodeficiency

Gene: TAPBP

Amber List (moderate evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Now 2 cases reported with homozygous LoF variants (7.4-kb deletion & c.312del).
Created: 10 Nov 2024, 4:46 a.m. | Last Modified: 10 Nov 2024, 4:46 a.m.
Panel Version: 1.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MHC class I deficiency MONDO:0011476

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported, also note 7.4-kb deletion, encompassing exons 4 through 7 rather than SNV.
Created: 11 Apr 2020, 10:55 a.m. | Last Modified: 11 Apr 2020, 10:55 a.m.
Panel Version: 0.131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bare lymphocyte syndrome, type I, MIM# 604571; MHC class I deficiency 3, MIM# 620814

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Bare lymphocyte syndrome, type I, MIM# 604571
  • MHC class I deficiency 3, MIM# 620814
Tags
SV/CNV
OMIM
601962
Clinvar variants
Variants in TAPBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: TAPBP were set to 12149238

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tapbp has been classified as Amber List (Moderate Evidence).

23 May 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAPBP were changed from Bare lymphocyte syndrome, type I, MIM# 604571 to Bare lymphocyte syndrome, type I, MIM# 604571; MHC class I deficiency 3, MIM# 620814

11 Apr 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: TAPBP.

11 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tapbp has been classified as Red List (Low Evidence).

11 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAPBP were changed from to Bare lymphocyte syndrome, type I, MIM# 604571

11 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TAPBP were set to

11 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tapbp has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TAPBP was added gene: TAPBP 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: TAPBP was set to Unknown