TERT

telomerase reverse transcriptase
OMIM: 187270
PanelMode of inheritanceDetails
11 panels
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Dyskeratosis congenita, autosomal recessive 4}, 613989, {Dyskeratosis congenita, autosomal dominant 2}, 613989
R-numbers: R91
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Pulmonary fibrosis, telomere-related, 1}, 614742, {Dyskeratosis congenita, autosomal dominant 2}, 613989, Coronary artery disease, {Melanoma, cutaneous malignant, 9}, 615134, 614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, Aplastic Anemia, 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, {Leukemia, acute myeloid}, 601626, 613989 Dyskeratosis congenita, {Dyskeratosis congenita, autosomal recessive 4}, 613989
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 4
Signed-off version 3.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Bone marrow failure, macrocytosis, Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, 613989
R-numbers: R347
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Leukemia, acute myeloid}, OMIM:601626, Dyskeratosis congenita, autosomal dominant 2, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
R-numbers: R331
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
R-numbers: R236
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2, DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED, Melanoma, Dyskeratosis congenita, DKCB4, INCLUDED
R-numbers: R421
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989
R-numbers: R359
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Dyskeratosis congenita, autosomal recessive 4}, 613989, {Dyskeratosis congenita, autosomal dominant 2}, 613989