Childhood solid tumours
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 29 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that Dyskeratosis congenita associated genes associated with cancer will be included in this panel and that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Publications
Lara Hawkes (Genomics England)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dynkeratosis Congenita
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert List
- 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
- {Leukemia, acute myeloid}, OMIM:601626
- {Melanoma, cutaneous malignant, 9}, OMIM:615134
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- Pulmonary fibrosis familial
- Pigmentary skin disorders
- Familial pulmonary fibrosis
- Childhood interstitial lung disease
- Intestinal failure or congenital diarrhoea
- Mosaic skin disorders - deep sequencing
- Hereditary ataxia with onset in adulthood
- Fetal anomalies
- Haematological malignancies for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Skeletal dysplasia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood onset dystonia, chorea or related movement disorder
- Familial melanoma
- Polycystic liver disease
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Cerebellar hypoplasia
- COVID-19 research
- Surfactant deficiency
- Childhood solid tumours
- Sarcoma susceptibility
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TERT were changed from {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989 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; {Leukemia, acute myeloid}, OMIM:601626; {Melanoma, cutaneous malignant, 9}, OMIM:615134
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to TERT. Source NHS GMS was added to TERT. Mode of inheritance for gene TERT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989 for gene: TERT Publications for gene TERT were changed from to 22965356; 22285015 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: TERT was added gene: TERT was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: TERT was set to