Immunological disorders Victorian Clinical Genetics Services
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
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Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Panels with this gene
-
- Sarcoma susceptibility
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Pigmentary skin disorders
- Childhood solid tumours
- Skeletal dysplasia
- Intellectual disability
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Polycystic liver disease
- Childhood solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Cerebellar hypoplasia
- Familial melanoma
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies cancer susceptibility
- Hereditary ataxia with onset in adulthood
- 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)
- Fetal anomalies
- Childhood interstitial lung disease
- Mosaic skin disorders - deep sequencing
- Haematological malignancies for rare disease
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)TERT was added to Immunological disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)TERT was created by Sarah Leigh