Polycystic liver disease interim

Gene: TERC

Amber List (moderate evidence)

TERC (telomerase RNA component)
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 16 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Created: 12 Mar 2019, 11:28 a.m.
Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that TERC will remain as an amber gene.
Created: 26 Nov 2018, 2:52 p.m. | Last Modified: 1 Nov 2019, 10:24 a.m.
Panel Version: 0.8
The gene is confirmed for causing Dskeratosis congenita on Gene2Phenotype; however, very few cases have been reported to have a liver phenotype. Therefore, have promoted from red to amber.
Created: 12 Nov 2018, 1:55 p.m.

Publications

History Filter Activity

15 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TERC were changed from Dyskeratosiscongenita, autosomal dominant 1 (127550) to Dyskeratosiscongenita, autosomal dominant 1, OMIM:127550

12 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: terc has been classified as Amber List (Moderate Evidence).

12 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TERC was added gene: TERC was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 21436073; 19936245; 22341970 Phenotypes for gene: TERC were set to Dyskeratosiscongenita, autosomal dominant 1 (127550)