Haematological malignancies cancer susceptibility
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees the mode of inheritance is 'both'.Created: 20 Aug 2018, 1:23 p.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- {Leukemia, acute myeloid}, OMIM:601626
- 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
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Polycystic liver disease
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- Cerebellar hypoplasia
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Intellectual disability
- Mosaic skin disorders - deep sequencing
- Hereditary ataxia with onset in adulthood
- Surfactant deficiency
- Childhood solid tumours
- Haematological malignancies for rare disease
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Skeletal dysplasia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma susceptibility
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Familial melanoma
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TERT were changed from 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 to {Leukemia, acute myeloid}, OMIM:601626; 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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: TERT was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to TERT. Panel: Haematological malignancies pertinent cancer susceptibility
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Haematological malignanciespanel. Sources: Curated sources
Created
Ellen McDonagh (Genomics England Curator)TERT was created by ellenmcdonagh