IBMDx study

Gene: TERT

Green List (high evidence)

TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 19 Jun 2021, 2:28 a.m. | Last Modified: 19 Jun 2021, 2:28 a.m.
Panel Version: 0.313

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, MIM# 613989
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
OMIM
187270
Clinvar variants
Variants in TERT
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TERT was added gene: TERT was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: TERT was set to Unknown Phenotypes for gene: TERT were set to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742