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DDG2P

Gene: TERC

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Dyskeratosis congenita, autosomal dominant 1 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 12090986).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dyskeratosis congenita, autosomal dominant 1

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Eleanor Williams (Genomics England Curator)

This panel reflects the Developmental Disorders panel from Gene2Phenotype and this gene still has a definitive rating on this panel in the Gene2Phenotype resource, but with the 'potential IF modifier.
Created: 14 Aug 2022, 8:50 p.m. | Last Modified: 14 Aug 2022, 8:50 p.m.
Panel Version: 2.78
Created: 14 Aug 2022, 8:50 p.m.
Last Modified: 14 Aug 2022, 8:50 p.m.
Panel version: 2.78

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

DD is not part of the phenotype.
Created: 27 Dec 2021, 10:54 a.m. | Last Modified: 27 Dec 2021, 10:54 a.m.
Panel Version: 2.55

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 27 Dec 2021, 10:54 a.m.
Last Modified: 27 Dec 2021, 10:54 a.m.
Panel version: 2.55

Rebecca Foulger (Genomics England curator)

I don't know

Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Dyskeratosis congenita, autosomal dominant 1.
Created: 29 Jan 2019, 12:14 p.m.
Original DDG2P rating for Dyskeratosis congenita, autosomal dominant 1: child IF.
Created: 19 Nov 2018, 11:31 a.m. | Last Modified: 14 Jul 2019, 10:10 a.m.
Panel Version: 1.78
Created: 19 Nov 2018, 11:31 a.m.
Last Modified: 14 Jul 2019, 10:10 a.m.
Panel version: 0.95

History Filter Activity

29 Jul 2024, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-long-non-coding tag was added to gene: TERC.

4 Oct 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TERC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: child I

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TERC was added gene: TERC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 12090986 Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1