TCIRG1

T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3
OMIM: 604592, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TCIRG1 in COVID-19 research Level 2: Viral research Version 1.146	review	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
Green TCIRG1 in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 1, OMIM:259700
Red TCIRG1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	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
Green TCIRG1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Osteopetrosis, autosomal recessive 1 259700
Amber TCIRG1 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes severe congenital neutropenia, MONDO:0018542 Tags watchlist
Green TCIRG1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Osteopetrosis, infantile malignant 259700
Green TCIRG1 in Osteopetrosis Level 2: Musculoskeletal Version 1.38 Latest signed off version: v1.1 (21 Sep 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 1 OMIM:259700