1. Genes and Genomic Entities
  2. TCIRG1

TCIRG1

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green TCIRG1 in COVID-19 research


Level 2: Viral research
Version 1.142

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


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Osteopetrosis, autosomal recessive 1 259700
    Amber TCIRG1 in Cytopenia - NOT Fanconi anaemia


    Version 3.33
    Latest signed off version: v3.0 (22 Mar 2023)

    		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


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Osteopetrosis, infantile malignant 259700
    Green TCIRG1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteopetrosis, autosomal recessive 1, 259700
    Green TCIRG1 in Osteopetrosis

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.34
    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