PanelApp (staging)
  1. Genes and Genomic Entities
  2. TERC

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 1.112

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

    Green TERC in Mendeliome


    Version 1.2302

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 1, MIM# 127550

    Green TERC in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.84

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

    Amber TERC in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.114

    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

    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 0.33

    		review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 1, MIM# 127550

    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