CTC1

CST telomere replication complex component 1
OMIM: 613129
PanelMode of inheritanceDetails
7 panels
R-numbers: R91
Signed-off version 1.29
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
Signed-off version 2.2
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts, 612199
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coats Plus syndrome, Cerebroretinal microangiopathy with calcifications and cysts, 612199