COVID-19 research
Gene: TCIRG1

TCIRG1 (T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3)
EnsemblGeneIds (GRCh38): ENSG00000110719
EnsemblGeneIds (GRCh37): ENSG00000110719
OMIM: 604592, Gene2Phenotype
TCIRG1 is in 7 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene. Recurrent infection possible but unlikely to be predominant presenting feature
Created: 7 May 2020, 1:32 p.m. | Last Modified: 7 May 2020, 1:32 p.m.

Panel Version: 0.203

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
infantile osteopetrosis

Publications

10888887

Created: 7 May 2020, 1:32 p.m.
Last Modified: 7 May 2020, 1:32 p.m.
Panel version: 0.203

Louise Daugherty (Genomics England Curator)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TCIRG1 .PanelApp HGNC gene symbol check: TCIRG1 . IUIS Disease: TCIRG1 deficiency associated osteopetrosis . IUIS Inheritance: AR .T cells: Increased CD4-CD8-TCR a/bdouble negative (DN) T cells, .B cells: N/A, .IUIS Other affected cells: Osteoclasts. IUIS Associated features: Osteopetrosis with hypocalcemia. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
Created: 6 Jul 2018, 12:25 p.m.

Created: 6 Jul 2018, 12:25 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1567

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
IUIS Classification December 2019
IUIS Classification February 2018
IUIS Classification December 2019
IUIS Classification February 2018

Phenotypes

Defects in intrinsic and innate immunity
Osteopetrosis with hypocalcemia
Defects in Intrinsic and Innate Immunity

OMIM

604592

Clinvar variants

Variants in TCIRG1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to TCIRG1. Added phenotypes Defects in intrinsic and innate immunity; Osteopetrosis with hypocalcemia; Defects in Intrinsic and Innate Immunity for gene: TCIRG1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TCIRG1 was added gene: TCIRG1 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCIRG1 were set to 32086639; 32048120 Phenotypes for gene: TCIRG1 were set to Defects in intrinsic and innate immunity; Osteopetrosis with hypocalcemia; Defects in Intrinsic and Innate Immunity

COVID-19 research Gene: TCIRG1