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  3. TCIRG1
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Defects of intrinsic and innate immunity

Gene: TCIRG1

Green List (high 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 13 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases reported and supporting mouse model. Cases have been reported with immunodeficiency.
Sources: Expert list
Created: 19 Mar 2021, 12:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 1 MIM#259700

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Mar 2021, 12:33 a.m.

Panel version: 0.46

History Filter Activity

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tcirg1 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tcirg1 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TCIRG1 was added gene: TCIRG1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCIRG1 were set to 10888887; 31938717; 19507210; 32048120 Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1 MIM#259700 Review for gene: TCIRG1 was set to GREEN gene: TCIRG1 was marked as current diagnostic