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DDG2P

Gene: TERC

Amber List (moderate evidence)

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

1 review

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

History Filter Activity

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