Genomics England
GMS Panels
Panels
Genes and Entities

CTC1

CST telomere replication complex component 1
OMIM: 613129
PanelMode of inheritanceDetails
7 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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
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 5.4
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coats Plus syndrome, Cerebroretinal microangiopathy with calcifications and cysts, 612199