TERT

telomerase reverse transcriptase
OMIM: 187270
PanelMode of inheritanceDetails
10 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: R359
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal dominant 2, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, OMIM:613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742, {Leukemia, acute myeloid}, OMIM:601626, {Melanoma, cutaneous malignant, 9}, OMIM:615134
R-numbers: R91
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal dominant 2, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, OMIM:613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 4
Signed-off version 4.0
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, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
R-numbers: R347
Signed-off version 3.0
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, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
R-numbers: R236
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal dominant 2, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
R-numbers: R421
Signed-off version 1.3
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 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal dominant 2, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, OMIM:613989