Genomics England

CTC1

CST telomere replication complex component 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita, Dyskeratosis Congenita, Recessive, Inherited Bone Marrow Failure Syndromes, 612199 Coats plus syndrome, Dyskeratosis congenita
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Class: BM failure FA, (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 Pulmonary fibrosis familial R-numbers: R421 Signed-off version 1.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coats Plus syndrome, Cerebroretinal microangiopathy with calcifications and cysts, 612199