Familial pulmonary fibrosis
Gene: TERCEnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 16 panels
3 reviews
Philip Molyneaux (Imperial College)
Small percentage but meets criteriaCreated: 26 Apr 2017, 9:40 a.m.
Alice Gardham (Genomics England)
Comment on list classification: Entry criteria recommends testing. See GenereviewCreated: 8 Feb 2017, 2:16 p.m.
Only makes up a very small percentage of pulmonary fibrosis cases (around 1%) but at least three reported cases and good evidence of association with telomere shortening. Entry criteria suggests testingCreated: 8 Feb 2017, 2:15 p.m.
Only makes up a very small percentage of pulmonary fibrosis cases (around 1%) but at least three reported cases and good evidence of association with telomere shortening. Entry criteria suggests testingCreated: 8 Feb 2017, 2:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Pulmonary fibrosis, idiopathic, susceptibility to} 614743
Publications
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 9 Jan 2017, 4:42 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743
- Tags
- OMIM
- 602322
- Clinvar variants
- Variants in TERC
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Pigmentary skin disorders
- Childhood solid tumours
- Haematological malignancies for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood interstitial lung disease
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- DDG2P
- Polycystic liver disease
History Filter Activity
Removed Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-misc was removed from gene: TERC. Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
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 TERC were set to {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for TERC were set to {Pulmonary fibrosis, idiopathic, susceptibility to} 614743
Set publications
Alice Gardham (Genomics England)Publications for TERC were set to 20301408; 17392301
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for TERC 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).
Added New Source
Ellen McDonagh (Genomics England Curator)TERC was added to Familial pulmonary fibrosispanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)TERC was created by ellenmcdonagh