Polycystic liver disease interim

Gene: TERT

Amber List (moderate evidence)

TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 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 TERT will remain as an amber gene.
Created: 26 Nov 2018, 2:54 p.m. | Last Modified: 1 Nov 2019, 10:23 a.m.
Panel Version: 0.8
Confirmed to cause Dyskeratosis congenita on Gene2Phenotype. There are several probands who have this variants in this gene and also display a liver phenotype, which might not be related to ductal plate malformation; however, all variants a substitution mutations (3/23 according to OMIM). Therefore, 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: TERT were changed from {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) to {Dyskeratosis congenita, autosomal dominant 2}, OMIM:613989; {Dyskeratosis congenita, autosomal recessive 4}, OMIM:613989

12 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tert 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: TERT was added gene: TERT was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TERT were set to 21436073; 19936245; 21483807 Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989)