×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
GeneticVariation
disease
BEFREE
On the basis of multiple system disorders and the detection of mutations in conserved telomere maintenance component 1(CTC1 ) gene, a diagnosis of CRMCC was made.
28072696
2017
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
CausalMutation
disease
CLINVAR
After a whole-exome sequencing approach in four unrelated individuals with CRMCC , we observed four recessively inherited compound heterozygous mutations in CTC1 , which encodes the CTS telomere maintenance complex component 1 .
22387016
2012
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
GeneticVariation
disease
BEFREE
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
25928698
2015
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
GeneticVariation
disease
BEFREE
Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.
23220793
2013
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
CausalMutation
disease
CLINVAR
Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.
23869908
2013
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
GeneticVariation
disease
CLINVAR
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
Biomarker
disease
CTD_human
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
CausalMutation
disease
CLINVAR
Clinical utility gene card for: Dyskeratosis congenita - update 2015.
25182133
2015
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
GeneticVariation
disease
BEFREE
Novel biallelic missense mutations in CTC1 gene identified in a Chinese family with Coats plus syndrome .
29111009
2017
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
GeneticVariation
disease
BEFREE
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC ) is an autosomal recessive disorder caused by pathogenic variants of the conserved telomere maintenance component 1 (CTC1 ) gene.
30393977
2018
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
CausalMutation
disease
CLINVAR
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
22267198
2012
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
Biomarker
disease
GENOMICS_ENGLAND
After a whole-exome sequencing approach in four unrelated individuals with CRMCC , we observed four recessively inherited compound heterozygous mutations in CTC1 , which encodes the CTS telomere maintenance complex component 1 .
22387016
2012
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
Biomarker
disease
GENOMICS_ENGLAND
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
22267198
2012
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
GeneticVariation
disease
BEFREE
Recently, autosomal recessively inherited mutations in CTC1 have been reported in CRMCC patients.
25843205
2015
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.760
GermlineCausalMutation
disease
ORPHANET
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
22267198
2012
×
Entrez Id:
84667
Gene Symbol:
HES7
HES7
0.010
GeneticVariation
disease
BEFREE
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
25928698
2015
×
Entrez Id:
4041
Gene Symbol:
LRP5
LRP5
0.010
Biomarker
disease
BEFREE
LRP5 is not a disease-causing gene in CRMCC .
21523908
2011
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
0.010
GeneticVariation
disease
BEFREE
Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.
23220793
2013
×
Entrez Id:
79991
Gene Symbol:
STN1
STN1
0.510
GeneticVariation
disease
BEFREE
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
27432940
2016
×
Entrez Id:
79991
Gene Symbol:
STN1
STN1
0.510
GermlineCausalMutation
disease
ORPHANET
ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.
25957586
2015
×
Entrez Id:
79991
Gene Symbol:
STN1
STN1
0.510
Biomarker
disease
CTD_human
×
Entrez Id:
26277
Gene Symbol:
TINF2
TINF2
0.010
GeneticVariation
disease
BEFREE
The pathogenesis of CRMCC is unknown, but its phenotype has key similarities with Revesz syndrome, which is caused by mutations in TINF2 , a gene encoding a member of the telomere protecting shelterin complex.
22387016
2012