TINF2

TERF1 interacting nuclear factor 2
OMIM: 604319, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green TINF2 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 3, MIM# 613990
    • Revesz syndrome, MIM# 268130

    Green TINF2 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.99

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Revesz syndrome, MIM# 268130

    Green TINF2 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.78

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 3 (MIM#613990)
    • Revesz syndrome (MIM#268130)

    Amber TINF2 in Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 3, MIM# 613990

    Green TINF2 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 3, MIM# 613990
    • Revesz syndrome, MIM# 268130

    Green TINF2 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 TINF2 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 3, MIM# 613990
    • Revesz syndrome, MIM# 268130

    Green TINF2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Revesz syndrome, MIM# 268130

    Green TINF2 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.30

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Autosomal dominant dyskeratosis congenita 3, 613990
    • Revesz syndrome, 268130

    Green TINF2 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Revesz syndrome, 268130

    Amber TINF2 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 TINF2 in Fetal anomalies


    Version 1.313

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Revesz syndrome, MIM# 268130

    Green TINF2 in IBMDx study


    Version 0.33

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Revesz syndrome, MIM# 268130
    • Dyskeratosis congenita, autosomal dominant 3, MIM# 613990

    Amber TINF2 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