Gene Symbol:
TERT
HGNC:11730
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5p15.33
Filters:

Definitive classifications

dyskeratosis congenita, autosomal dominant 2
Submitted as: OMIM:613989
SD
08/31/2018
Evaluated
12/24/2020
Submitted
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Submitted as: OMIM:614742
AD
10/04/2023
Evaluated
01/02/2024
Submitted
dyskeratosis congenita, autosomal dominant 2
Submitted as: OMIM:613989
Unknown
04/22/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
dyskeratosis congenita, autosomal dominant 2
Submitted as: OMIM:613989
AR
10/04/2023
Evaluated
01/02/2024
Submitted
dyskeratosis congenita, autosomal dominant 2
SD
07/30/2020
Evaluated
04/21/2024
Submitted

Strong classifications

acute myeloid leukemia
Submitted as: OMIM:601626
AD
03/04/2020
Evaluated
03/31/2021
Submitted
dyskeratosis congenita, autosomal dominant 2
Submitted as: OMIM:613989
AD
08/20/2021
Evaluated
11/30/2023
Submitted
dyskeratosis congenita, autosomal dominant 2
Submitted as: OMIM:613989
AR
08/20/2021
Evaluated
11/30/2023
Submitted
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Submitted as: OMIM:614742
AD
11/02/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

dyskeratosis congenita, autosomal dominant 2
Submitted as: OMIM:613989
AD
01/14/2021
Evaluated
03/31/2021
Submitted
dyskeratosis congenita, autosomal dominant 2
Submitted as: OMIM:613989
AR
01/14/2021
Evaluated
03/31/2021
Submitted

Supportive classifications

dyskeratosis congenita
Submitted as: Orphanet:1775
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Hoyeraal-Hreidarsson syndrome
Submitted as: Orphanet:3322
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

melanoma, cutaneous malignant, susceptibility to, 9
Submitted as: OMIM:615134
AD
04/28/2020
Evaluated
12/24/2020
Submitted
acute myeloid leukemia
Submitted as: OMIM:601626
AD
05/25/2021
Evaluated
11/30/2023
Submitted
melanoma, cutaneous malignant, susceptibility to, 9
Submitted as: OMIM:615134
AD
05/18/2023
Evaluated
11/30/2023
Submitted

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