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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 29 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • {Dyskeratosis congenita, autosomal dominant 2}, 613989
  • {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742
  • {Dyskeratosis congenita, autosomal recessive 4}, 613989
OMIM
187270
Clinvar variants
Variants in TERT
Penetrance
None
Publications
Panels with this gene