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Research panel - Severe Paediatric Disorders

Gene: TERT

Green List (high evidence)
TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 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: TERT; Recommended initial gene rating: Green List (high evidence); Phenotypes: {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3) | {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3) | {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal recessive, Autosomal dominant |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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TERT were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal dominant 2}, 613989 for gene: TERT

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TERT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TERT.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TERT. 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: TERT was added gene: TERT was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TERT was set to