Genomics England

TERC

telomerase RNA component

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550
Green in Cytopenia - NOT Fanconi anaemia 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 Haematological malignancies cancer susceptibility 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
Green in Inherited predisposition to acute myeloid leukaemia (AML) 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
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, Dyskeratosis congenita, DKCA1
Green in Pulmonary fibrosis familial R-numbers: R421 Signed-off version 1.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes {Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:614743