Childhood solid tumours cancer susceptibility
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 29 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 that 'both' is the correct mode of inheritance.Created: 20 Aug 2018, 1:13 p.m.
Comment on mode of inheritance: Changed to 'both' after confirmation with Clare Turnbull.Created: 16 Mar 2018, 9:36 a.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dynkeratosis Congenita
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- 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
- Complete
- 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 Dynkeratosis Congenita 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
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
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TERT was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Childhood solid tumourspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Childhood solid tumourspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)TERT was created by ellenmcdonagh