Familial pulmonary fibrosis
Gene: TERC
Small percentage but meets criteriaCreated: 26 Apr 2017, 9:40 a.m.
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
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 9 Jan 2017, 4:42 p.m.
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Phenotypes for TERC were set to {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743
This gene has been classified as Green List (High Evidence).
Phenotypes for TERC were set to {Pulmonary fibrosis, idiopathic, susceptibility to} 614743
Publications for TERC were set to 20301408; 17392301
Mode of inheritance for TERC was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
TERC was added to Familial pulmonary fibrosispanel. Sources: Eligibility statement prior genetic testing
TERC was created by ellenmcdonagh