1. Panels
  2. Defects of intrinsic and innate immunity
  3. TBX21
STRs in panel
Prev Next
Regions in panel
Prev Next

Defects of intrinsic and innate immunity

Gene: TBX21

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

1 review

Peter McNaughton (Queensland Children's Hospital)

I don't know

Single patient with strong functional validation
Sources: Literature
Created: 13 Jul 2022, 10:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to mycobacterial disease

Publications

Created: 13 Jul 2022, 10:08 p.m.

Panel version: 0.112

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 88, MIM# 619630
  • Susceptibility to mycobacterial disease
OMIM
604895
Clinvar variants
Variants in TBX21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx21 has been classified as Amber List (Moderate Evidence).

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx21 has been classified as Amber List (Moderate Evidence).

14 Jul 2022, Gel status: 0

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBX21 were changed from Susceptibility to mycobacterial disease to Immunodeficiency 88, MIM# 619630; Susceptibility to mycobacterial disease

13 Jul 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: TBX21 was added gene: TBX21 was added to Defects of innate immunity. Sources: Literature Mode of inheritance for gene: TBX21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBX21 were set to PMID: 33296702; PMID: 34160550 Phenotypes for gene: TBX21 were set to Susceptibility to mycobacterial disease Review for gene: TBX21 was set to AMBER