Childhood solid tumours 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 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
-
- Sarcoma susceptibility
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Familial melanoma
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Polycystic liver disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Skeletal dysplasia
- Pulmonary fibrosis familial
- Cerebellar hypoplasia
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies cancer susceptibility
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Familial pulmonary fibrosis
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Intestinal failure or congenital diarrhoea
- Childhood onset dystonia, chorea or related movement disorder
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood interstitial lung disease
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Haematological malignancies for rare disease
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