Familial pulmonary fibrosis

Gene: TERC

Green List (high evidence)

TERC (telomerase RNA component)
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 15 panels

3 reviews

Philip Molyneaux (Imperial College)

Green List (high evidence)

Small percentage but meets criteria
Created: 26 Apr 2017, 9:40 a.m.

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Entry criteria recommends testing. See Genereview
Created: 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 testing
Created: 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 testing
Created: 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.

History Filter Activity

27 Apr 2017, Gel status: 4

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

27 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TERC were set to {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743

8 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

8 Feb 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for TERC were set to {Pulmonary fibrosis, idiopathic, susceptibility to} 614743

8 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for TERC were set to 20301408; 17392301

8 Feb 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for TERC was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TERC was added to Familial pulmonary fibrosispanel. Sources: Eligibility statement prior genetic testing

2 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TERC was created by ellenmcdonagh