TERC

telomerase RNA component
OMIM: 602322
PanelMode of inheritanceDetails
7 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dyskeratosis congenita, autosomal dominant 1, 127550
R-numbers: R91
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, 614743 pulmonary fibrosis and/or bone marrow failure, 129550 Dyskeratosis congenita, autosomal dominant 1, Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2, Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1, 127550 Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita, Dyskeratosis Congenita, Autosomal Dominant, 1, Inherited Bone Marrow Failure Syndromes
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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: R347
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskeratosis congenita, autosomal dominant 1, OMIM:127550, {Aplastic anemia}, OMIM:614743
R-numbers: R236
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, Dyskeratosis congenita, DKCA1
R-numbers: R421
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:614743
R-numbers: R359
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dyskeratosis congenita, autosomal dominant 1, 127550