Familial pulmonary fibrosis
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 29 panels
2 reviews
Philip Molyneaux (Imperial College)
Alice Gardham (Genomics England)
Comment when marking as ready: Entry criteria recommends testingCreated: 8 Feb 2017, 2:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1} 614742
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- Complete
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TERT were changed from {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; Familial Pulmonary Fibrosis; Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Pulmonary Disease to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TERT were set to {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; Familial Pulmonary Fibrosis; Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Pulmonary Disease
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TERT were set to {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742; Familial Pulmonary Fibrosis; Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Pulmonary Disease
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for TERT was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for TERT were set to 20301408; 17392301
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Familial pulmonary fibrosispanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Familial pulmonary fibrosispanel. Source: Emory Genetics Laboratory
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Familial pulmonary fibrosispanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TERT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Ellen McDonagh (Genomics England Curator)TERT was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen