TERT

telomerase reverse transcriptase
OMIM: 187270, Gene2Phenotype

26 panels

Panel Reviews Mode of inheritance Details
26 panels

Green TERT in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.7

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 TERT in COVID-19 research


Level 2: Viral research
Version 1.80

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
  • Bone marrow failure
  • Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
  • microcephaly, neurodevelopmental delay

Green TERT 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
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742
  • Familial Pulmonary Fibrosis
  • Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
  • Pulmonary Disease

Amber TERT in Ataxia and cerebellar anomalies - narrow panel


Version 2.241
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • dyskeratosis congenita-2

    Green TERT 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert List
    Phenotypes
    • {Dyskeratosis congenita, autosomal recessive 4}, 613989
    • {Dyskeratosis congenita, autosomal dominant 2}, 613989

    Amber TERT in Familial melanoma


    Version 1.10
    Latest signed off version: v1.2 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert List

    Green TERT in Pigmentary skin disorders


    Version 1.16
    Latest signed off version: v1.4 (15 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
    • DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED
    • Melanoma
    • Dyskeratosis congenita
    • DKCB4, INCLUDED

    Amber TERT in Ductal plate malformation


    Version 1.18

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • {Dyskeratosis congenita, autosomal dominant 2} (613989)
    • {Dyskeratosis congenita, autosomal recessive 4} (613989)

    Amber TERT in Polycystic liver disease interim


    Version 1.23
    Latest signed off version: v1.4 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • NHS GMS
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • {Dyskeratosis congenita, autosomal dominant 2}, OMIM:613989
    • {Dyskeratosis congenita, autosomal recessive 4}, OMIM:613989

    Green TERT in Inherited predisposition to acute myeloid leukaemia (AML)


    Version 1.19
    Latest signed off version: v1.2 (3 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • North West GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • {Leukemia, acute myeloid}, OMIM:601626
    • Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
    • Dyskeratosis congenita, autosomal recessive 4, OMIM:613989

    Amber TERT in Primary immunodeficiency


    Version 2.480
    Latest signed off version: v2.1 (24 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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
    • Bone marrow failure
    Tags
    • missense

    Green TERT in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.88

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • UKGTN
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Aplastic Anemia
    • Coronary artery disease
    • {Dyskeratosis congenita, autosomal recessive 4}, 613989
    • {Dyskeratosis congenita, autosomal dominant 2}, 613989
    • {Pulmonary fibrosis, telomere-related, 1}, 614742
    • {Leukemia, acute myeloid}, 601626
    • {Melanoma, cutaneous malignant, 9}, 615134

    No list TERT in Mosaic skin disorders - deep sequencing


    Version 1.5
    Latest signed off version: v1.3 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Melanoma
    • Dyskeratosis congenita
    Tags
    • curated_removed

    Green TERT in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.15

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dynkeratosis Congenita

    Green TERT 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • {Dyskeratosis congenita, autosomal recessive 4}, 613989
    • {Dyskeratosis congenita, autosomal dominant 2}, 613989

    Green TERT in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.21
    Latest signed off version: v2.2 (18 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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

    Amber TERT in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    • UKGTN
    Phenotypes
    • dyskeratosis congenita-2

    Red TERT in Surfactant deficiency


    Version 1.9
    Latest signed off version: v1.2 (2 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS

    Green TERT in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.145
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989

    Green TERT in Cytopenia - NOT Fanconi anaemia


    Version 1.43
    Latest signed off version: v1.29 (15 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • {Pulmonary fibrosis, telomere-related, 1}, 614742
    • {Dyskeratosis congenita, autosomal dominant 2}, 613989
    • Coronary artery disease
    • {Melanoma, cutaneous malignant, 9}, 615134
    • 614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
    • Aplastic Anemia
    • 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}
    • {Leukemia, acute myeloid}, 601626
    • 613989 Dyskeratosis congenita
    • {Dyskeratosis congenita, autosomal recessive 4}, 613989

    Red TERT in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 4

    Green TERT in DDG2P


    Version 2.50
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 4

    Amber TERT in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1393
    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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 4

    Green TERT in Hereditary ataxia - adult onset


    Version 2.90
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Dyskeratosis congenita, 613989

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


    Version 1.162
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green TERT in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Dyskeratosis congenita, autosomal dominant 2}, 613989
    • {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742
    • {Dyskeratosis congenita, autosomal recessive 4}, 613989