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Research panel - Severe Paediatric Disorders

Gene: TERC

Green List (high evidence)
TERC (telomerase RNA component)
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 16 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TERC; Recommended initial gene rating: Green List (high evidence); Phenotypes: Dyskeratosis congenita, autosomal dominant 1, 127550 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:26 p.m.
Last Modified: 20 Feb 2020, 5:26 p.m.
Panel version: 0.12

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.

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TERC were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 for gene: TERC

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 for gene: TERC

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 for gene: TERC

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 for gene: TERC

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TERC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 for gene: TERC

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TERC.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TERC was added gene: TERC was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TERC was set to