1. Genes and Genomic Entities
  2. TINF2

TINF2

TERF1 interacting nuclear factor 2
OMIM: 604319, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Green TINF2 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.19

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Dyskeratosis congenita
  • MDS, AML
  • Bone marrow failure, macrocytosis
  • Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
Green TINF2 in COVID-19 research


Level 2: Viral research
Version 1.147

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • microcephaly, neurodevelopmental delay exudative retinopathy
  • Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
  • microcephaly, neurodevelopmental delay
Green TINF2 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.32

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyskeratosis congenita, autosomal dominant, 3, 613990
  • Associated with dyskeratosis congenita and Fibrosis
Green TINF2 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.76
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 3 613990
    Amber TINF2 in Childhood solid tumours


    Level 2: Cancer susceptibility
    Version 5.10
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 3, 613990
    Green TINF2 in Pigmentary skin disorders


    Level 2: Dermatology
    Version 4.13
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3
    • Revesz syndrome
    • Dyskeratosis congenita
    • DKCA3, REVESZ SYNDROME
    Red TINF2 in Ductal plate malformation


    Version 1.31

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 3 (613990)
    Amber TINF2 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.99
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • ESID Registry 20171117
    • GRID V2.0
    Phenotypes
    • Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
    • microcephaly, neurodevelopmental delay
    • Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
    • microcephaly, neurodevelopmental delay exudative retinopathy
    Amber TINF2 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.124

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Revesz syndrome 268130
    • Dyskeratosis congenita, autosomal dominant 3 613990
    Green TINF2 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Revesz syndrome, 268130
    Amber TINF2 in Adult solid tumours cancer susceptibility


    Level 2: Cancer susceptibility
    Version 2.35
    Latest signed off version: v2.2 (18 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 3, 613990
    Green TINF2 in Haematological malignancies cancer susceptibility


    Level 2: Cancer susceptibility
    Version 4.40
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Curated sources
    Phenotypes
    • Class: BM failure syndrome (typ AR)
    • Dyskeratosis congenita
    • MDS, AML
    • Bone marrow failure, macrocytosis
    • Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
    Green TINF2 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.86

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 3 613990
    Green TINF2 in Cytopenia - NOT Fanconi anaemia


    Level 2: Haematology
    Version 4.32
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 3, 613990
    • Revesz syndrome, 268130
    • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
    Green TINF2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
    Green TINF2 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
    Red TINF2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 3, 613990
    • Revesz syndrome, 268130
    Red TINF2 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Autosomal dominant dyskeratosis congenita 3, 613990
    • Revesz syndrome, 268130
    Green TINF2 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.116
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Revesz syndrome, 268130
    Red TINF2 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.20
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green TINF2 in Pulmonary fibrosis familial


    Level 2: Respiratory
    Version 1.9
    Latest signed off version: v1.3 (30 Nov 2022)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 3, OMIM:613990