This Panel is marked as Internal
Early onset pancytopenia and red cell disorders
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
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Dyskeratosis congenita
- Dyskeratosis Congenita, Recessive
- Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
- OMIM
- 613129
- Clinvar variants
- Variants in CTC1
- Penetrance
- Complete
- Panels with this gene
-
- Pulmonary fibrosis familial
- Intracerebral calcification disorders
- Haematological malignancies cancer susceptibility
- DDG2P
- Cytopenias and congenital anaemias
- Adult onset leukodystrophy
- COVID-19 research
- Fetal anomalies
- Haematological malignancies for rare disease
- Intellectual disability
- Ductal plate malformation
- Retinal disorders
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)CTC1 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
30 Sep 2015, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CTC1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
30 Sep 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CTC1 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list