Pulmonary fibrosis familial
Gene: TERT
TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 29 panels
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 29 panels
1 review
Arina Puzriakova (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: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:02 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intestinal failure or congenital diarrhoea
- Pigmentary skin disorders
- Ataxia and cerebellar anomalies - narrow panel
- Haematological malignancies for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Familial melanoma
- Mosaic skin disorders - deep sequencing
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Polycystic liver disease
- Fetal anomalies
- 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
- Childhood interstitial lung disease
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
History Filter Activity
16 Feb 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: TERT was added gene: TERT was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERT were set to 17392301; 27836952; 16247010 Phenotypes for gene: TERT were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742