Ductal plate malformation
Gene: CTC1
CTC1 (CST telomere replication complex component 1)
EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 17 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Cerebroretinal microangiopathy with calcifications and cysts (612199)
- OMIM
- 613129
- Clinvar variants
- Variants in CTC1
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- White matter disorders and cerebral calcification - narrow panel
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Haematological malignancies cancer susceptibility
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset leukodystrophy
- COVID-19 research
- Haematological malignancies for rare disease
- Retinal disorders
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Fetal anomalies
History Filter Activity
30 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Demoted from amber to red as i
6 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CTC1 was added gene: CTC1 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts (612199)