TCIRG1

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TCIRG1 in COVID-19 research


Level 2: Viral research
Version 1.80

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

Amber TCIRG1 in Hydrocephalus


Version 2.123
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Osteopetrosis, autosomal recessive 1, OMIM:259700
Tags
  • Q4_21_rating

Red TCIRG1 in Primary immunodeficiency


Version 2.480
Latest signed off version: v2.1 (24 Feb 2020)

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 2.145
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Osteopetrosis, autosomal recessive 1 259700

    Green TCIRG1 in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    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 1.84

    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 1.27
    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