Intracerebral calcification disorders
Gene: CTC1EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 17 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review green. This is a green gene on the Intellectual disability gene panel (version 1.14). More than 6 cases/family reports in OMIM for Cerebroretinal microangiopathy with calcifications and cysts, and is a confirmed DD gene forthis disorder.Created: 29 Nov 2016, 12:59 p.m.
Yanick Crow (University of Manchester)
Highly stereotyped clinical and neuroradiological phenotype where the presence, and pattern, of intracranial calcification is important diagnostically.Created: 11 Feb 2016, 7:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intracerebral calcification, white matter disease and intracerebral cysts. Sometimes with Coats disease, bone fractures and GI bleeding
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Cerebroretinal microangiopathy with calcifications and cysts, 612199
- Coats Plus syndrome
- OMIM
- 613129
- Clinvar variants
- Variants in CTC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Retinal disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- COVID-19 research
- Haematological malignancies for rare disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199; Coats Plus syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CTC1 were set to 22267198;22387016
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)CTC1 was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)CTC1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CTC1 was added to Intracerebral calcification disorderspanel. Sources: Expert list