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DDG2P

Gene: TERT

Green List (high evidence)
TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TERT-related dyskeratosis congenita (biallelic) are strong, biallelic_autosomal and undetermined (PMIDs: 16247010, 17785587, 24628319, 25067791, 26546739, 30523342, 32315675, 34890115, 35477117, 35927969). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01663. The DDG2P confidence category, allelic requirement and molecular mechanism for TERT-related dyskeratosis congenita (monoallelic) are strong, monoallelic_autosomal and loss of function (PMIDs: 16247010, 25067791, 30523342, 35927969, 38641551). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03384.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Dyskeratosis Congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 16247010;30523342;25067791;35927969). The DDG2P confidence category for the disease TERT-related Dyskeratosis congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 35477117;34890115;26546739;17785587).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease Dyskeratosis congenita, autosomal recessive 4 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:17785587).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
OMIM:613989.0; Dyskeratosis Congenita, OMIM:613989; TERT-related dyskeratosis congenita (monoallelic); MONDO:0013521; TERT-related Dyskeratosis congenita, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4; TERT-related dyskeratosis congenita (biallelic)

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.19

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: TERT was changed from Other to None

13 Feb 2026, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene TERT was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene TERT was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TERT was added gene: TERT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TERT were set to 17785587 Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4 Mode of pathogenicity for gene: TERT was set to Other - please provide details in the comments