Bone Marrow Failure
Gene: TERT

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

Created: 19 Jun 2021, 2:28 a.m.
Last Modified: 19 Jun 2021, 2:28 a.m.
Panel version: 0.313

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

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

Publications

Panels with this gene