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 1.4

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 1.79

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 1.16

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


Version 2.234
Latest signed off version: v2.23 (8 Oct 2020)

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 Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 2.23
    Latest signed off version: v2.5 (4 Mar 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 Pigmentary skin disorders


    Version 1.15
    Latest signed off version: v1.4 (15 Oct 2020)

    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 1.18

    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


    Version 2.468
    Latest signed off version: v2.1 (24 Feb 2020)

    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 1.87

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • 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 1.28

    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 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.14
    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 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.18
    Latest signed off version: v2.2 (18 Feb 2020)

    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 1.59

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

    Green TINF2 in Cytopenia - NOT Fanconi anaemia


    Version 1.42
    Latest signed off version: v1.29 (15 Oct 2020)

    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


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 - adult onset


    Version 2.85
    Latest signed off version: v2.13 (6 Oct 2020)

    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

    Amber TINF2 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.209
    Latest signed off version: v2.195 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Revesz syndrome, 268130
    Tags
    • for-review

    Red TINF2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green TINF2 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Revesz syndrome, 268130
    • Dyskeratosis congenita, autosomal dominant 3, 613990