TERC

telomerase RNA component
OMIM: 602322, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TERC in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
    • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
    Tags
    • non-coding gene

    Green TERC in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
    • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
    Tags
    • non-coding gene

    Green TERC in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.87

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
    • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
    Tags
    • non-coding gene

    Amber TERC in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
    Tags
    • non-coding gene

    Amber TERC in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Dyskeratosis congenita

    Green TERC in IBMDx study


    Version 0.35

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • IBMDx Study
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
    • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
    Tags
    • non-coding gene

    Amber TERC in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category B gene
    • Expert Review Amber
    Phenotypes
    • Dyskeratosis congenita
    Tags
    • non-coding gene