Ductal plate malformation

Gene: TERT

Amber List (moderate evidence)

TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 29 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that RTEL1 will remain as an amber gene.
Created: 26 Nov 2018, 2:54 p.m.
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.


History Filter Activity

12 Mar 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TERT. Added phenotypes {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) for gene: TERT Publications for gene TERT were changed from 19936245; 21483807; 21436073 to 21436073; 19936245; 21483807

30 Nov 2018, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Confirmed to cause Dyskeratosi

26 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

26 Nov 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TERT were set to

12 Nov 2018, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to TERT. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TERT was added gene: TERT was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal recessive 4} (613989); {Dyskeratosis congenita, autosomal dominant 2} (613989)