Combined Immunodeficiency
Gene: TAPBP
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
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
Publications for gene: TAPBP were set to 12149238
Gene: tapbp has been classified as Amber List (Moderate Evidence).
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
Tag SV/CNV tag was added to gene: TAPBP.
Gene: tapbp has been classified as Red List (Low Evidence).
Phenotypes for gene: TAPBP were changed from to Bare lymphocyte syndrome, type I, MIM# 604571
Publications for gene: TAPBP were set to
Mode of inheritance for gene: TAPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: tapbp has been classified as Red List (Low Evidence).
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