This Panel is marked as Internal
Anaemias and red cell disorders
Gene: TERT
TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
2 reviews
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
-
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Eligibility statement prior genetic testing
- 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
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Skeletal dysplasia
- Polycystic liver disease
- Childhood solid tumours cancer susceptibility
- 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
- Intellectual disability
- Pigmentary skin disorders
- COVID-19 research
- 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
History Filter Activity
22 Jul 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Anaemias and red cell disorderspanel. Sources: Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert list
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TERT was created by ellenmcdonagh