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Primary immunodeficiency

Gene: TBX21

Red List (low evidence)

TBX21 (T-box 21)
EnsemblGeneIds (GRCh38): ENSG00000073861
EnsemblGeneIds (GRCh37): ENSG00000073861
OMIM: 604895, Gene2Phenotype
TBX21 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Boaz Palterer. Rating Red as only single patient reported at present with homozygous variants in the TBX21 gene resulting clinically in MSMD. Additional cases required to support pathogenicity and inclusion on a diagnostic panel.
Created: 18 Dec 2020, 2:02 p.m. | Last Modified: 18 Dec 2020, 2:02 p.m.
Panel Version: 2.385

Boaz Palterer (University of Florence)

Red List (low evidence)

One patient from consanguineous parents with homozygous indel. Corroborated by in vitro and mouse model.
Sources: Literature
Created: 12 Dec 2020, 4:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Defects with susceptibility to mycobacterial infection (MSMD); Defects in Intrinsic and Innate Immunity

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Defects in Intrinsic and Innate Immunity
OMIM
604895
Clinvar variants
Variants in TBX21
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

18 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tbx21 has been classified as Red List (Low Evidence).

12 Dec 2020, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: TBX21 was added gene: TBX21 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: TBX21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBX21 were set to 33296702 Phenotypes for gene: TBX21 were set to Defects with susceptibility to mycobacterial infection (MSMD); Defects in Intrinsic and Innate Immunity Penetrance for gene: TBX21 were set to unknown Review for gene: TBX21 was set to RED