TCIRG1

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

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green TCIRG1 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 1, MIM# 259700

Green TCIRG1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green TCIRG1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 1, MIM# 259700

Green TCIRG1 in Osteopetrosis


Level 2: Skeletal disorders
Version 0.34

review Unknown
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green TCIRG1 in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 1.20

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteopetrosis, autosomal recessive 1 MIM#259700

    Amber TCIRG1 in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.33

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • severe congenital neutropenia, MONDO:0018542

    Green TCIRG1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

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

    Green TCIRG1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Osteopetrosis, autosomal recessive 1, 259700 (3)

    Green TCIRG1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Osteopetrosis, infantile malignant

    Green TCIRG1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Osteopetrosis, infantile malignant 259700

    Green TCIRG1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Osteopetrosis, autosomal recessive 1, 259700 (3)

    Green TCIRG1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Osteopetrosis, autosomal recessive 1, MIM# 259700
    Tags
    • treatable
    • skeletal

    Green TCIRG1 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Osteopetrosis, autosomal recessive 1, 259700 (3)