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Primary immunodeficiency

Gene: TCIRG1

Red List (low evidence)

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

1 review

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Defects in Intrinsic and Innate Immunity
  • Defects in intrinsic and innate immunity
  • Osteopetrosis with hypocalcemia
OMIM
604592
Clinvar variants
Variants in TCIRG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to TCIRG1. Mode of inheritance for gene TCIRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Defects in intrinsic and innate immunity; Osteopetrosis with hypocalcemia for gene: TCIRG1 Publications for gene TCIRG1 were updated from to 32048120; 32086639

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene TCIRG1 were set to Osteopetrosis with hypocalcemia, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TCIRG1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

TCIRG1 was created by Louise Daugherty