Osteopetrosis

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 7 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 1 OMIM:259700
OMIM
604592
Clinvar variants
Variants in TCIRG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1 259700 to Osteopetrosis, autosomal recessive 1 OMIM:259700

17 Sep 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TCIRG1 were set to

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: TCIRG1 was added gene: TCIRG1 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1 259700