Cytopenias and congenital anaemias
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
4 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as ready after internal reviewCreated: 10 Mar 2017, 12:44 p.m.
Sarah Leigh (Genomics England Curator)
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
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
-
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 (AD)
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Surfactant deficiency
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Sarcoma susceptibility
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Familial melanoma
- Mosaic skin disorders - deep sequencing
- Skeletal dysplasia
- Fetal anomalies
- Polycystic liver disease
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Familial pulmonary fibrosis
- Cerebellar hypoplasia
- Haematological malignancies cancer susceptibility
- Intestinal failure or congenital diarrhoea
- Pigmentary skin disorders
- COVID-19 research
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TERT were changed from 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 to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 (AD)
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.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)TERT was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Green
Set publications
Sarah Leigh (Genomics England Curator)Publications for TERT were set to 15885610; 19179534; 15814878;
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
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
Created
Louise Daugherty (Genomics England Curator)TERT was created by LouiseD