Intestinal failure or congenital diarrhoea
Gene: TERT
TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Panels with this gene
-
- Familial melanoma
- Cytopenia - NOT Fanconi anaemia
- Childhood solid tumours cancer susceptibility
- Cerebellar hypoplasia
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ataxia and cerebellar anomalies - childhood onset
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- Fetal anomalies
- Childhood interstitial lung disease
- Mosaic skin disorders - Deep sequencing
- Polycystic liver disease
- Haematological malignancies for rare disease
- Intestinal failure or congenital diarrhoea
- Sarcoma susceptibility
- Skeletal dysplasia
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
- DDG2P
- Pigmentary skin disorders
- Hereditary ataxia, adult onset
History Filter Activity
8 Mar 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TERT was added gene: TERT was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4, OMIM:613989