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Cytopenias and congenital anaemias

Gene: TERT

Green List (high evidence)

TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 26 panels

4 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready after internal review
Created: 10 Mar 2017, 12:44 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and as a confirmed G2P for {Dyskeratosis congenita, autosomal recessive 4}, 613989. numerous variants reported.
Created: 9 Mar 2017, 4:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aplastic Anemia; {Bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Coronary artery disease}; {Pulmonary fibrosis, telomere-related, 1}, 614742; {Leukemia, acute myeloid}, 601626; {Melanoma, cutaneous malignant, 9}, 615134; Inherited Bone Marrow Failure Syndromes; Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere Related Pulmonary Fibrosis And/Or Bone Marrow Failure 1; ; Dyskeratosis congenita; {Bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Coronary artery disease; {Pulmonary fibrosis, telomere-related, 1}, 614742; {Melanoma, cutaneous malignant, 9}, 615134; Dyskeratosis Congenita, Recessive; Dyskeratosis Congenita, Autosomal Dominant, 2; Telomere-Related Pulmonary Fibrosis And/Or Bone Marrow Failure-2; Bone marrow failure, telomere-related, 1

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Mode of inheritance from the Illumina source is recessive for aplastic anemia, whereas from the UKGTN it is autosomal dominant for Telomere‐Related Pulmonary Fibrosis And/Or Bone Marrow Failure -1.
Created: 29 Oct 2015, 1:52 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
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
OMIM
187270
Clinvar variants
Variants in TERT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

TERT was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Green

7 Mar 2017, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TERT were set to 15885610; 19179534; 15814878;

7 Mar 2017, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TERT were set to 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

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

TERT was added to Cytopaenias and congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TERT was created by LouiseD