TERC

telomerase RNA component
OMIM: 602322
PanelMode of inheritanceDetails
8 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dyskeratosis congenita, autosomal dominant 1, 127550
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dyskeratosis congenita, autosomal dominant 1, 127550
R-numbers: R91
Signed-off version 3.0
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
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dyskeratosis congenita, autosomal dominant 1
Signed-off version 4.0
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 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskeratosis congenita, autosomal dominant 1, OMIM:127550, {Aplastic anemia}, OMIM:614743
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, Dyskeratosis congenita, DKCA1
R-numbers: R421
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:614743