RTEL1

regulator of telomere elongation helicase 1
OMIM: 608833, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green RTEL1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, MIM# 615190
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373

    Green RTEL1 in Inflammatory bowel disease


    Level 2: Gastroenterological disorders
    Version 0.124

    Component of the following Super Panels:

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

    Green RTEL1 in Mendeliome


    Version 1.2374

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 4 MIM# 615190
    • Dyskeratosis congenita, autosomal recessive 5 MIM# 615190
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373

    Green RTEL1 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
    Phenotypes
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373

    Green RTEL1 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 4 MIM# 615190
    • Dyskeratosis congenita, autosomal recessive 5 MIM# 615190
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373

    Green RTEL1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 5, MIM#615190

    Green RTEL1 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
    • Dyskeratosis congenita, autosomal recessive 5, 615190 (3)

    Green RTEL1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 5 MIM#615190
    • Hoyeraal-Hreidarsson syndrome

    Green RTEL1 in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
    • Dyskeratosis congenita, MIM# 615190

    Green RTEL1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 5, MIM#615190

    Green RTEL1 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 5, 615190 (3)