Adult onset leukodystrophy
Gene: CTC1EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 17 panels
6 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 1:56 p.m. | Last Modified: 9 Mar 2022, 1:56 p.m.
Panel Version: 1.40
Zornitza Stark (Australian Genomics)
Onset is typically in childhood. Mild phenotype in 15yo reported in PMID 22532422.Created: 21 Jun 2020, 6:16 a.m. | Last Modified: 21 Jun 2020, 6:16 a.m.
Panel Version: 1.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Publications
David Lynch (UCL Institute of Neurology)
Catherine Snow (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts, 612199
Louise Daugherty (Genomics England Curator)
Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 4 Jul 2019, 4:32 p.m.
Panel Version: 0.10
Ian Berry (Leeds Genetics Laboratory)
Included all genes listed in clinical cases in Lynch et al 2015 PMID:28334938 and Ayrignac et al. 2015 PMID: 25527826. Included all genes with clear adult onset listed in Vanderver 2017 PMID:27159321 and Ahmed et al. 2017 PMID:24357685. A small number of genes from these resources were omitted, particularly those with limited or single case reports referenced in Ahmed et al, those with a metabolic basis (that could be determined by standard metabolic assays), and recessive diseases where the likelihood of encountering incidental carrier status is far more likely than finding a diagnosis e.g. Cockayne syndrome. Due to variable expressivity and potential later onset of phenotype in hypomorphic cases, peroxisomal biogenesis disorders OMIM phenotypic Series PS214100 and GeneReviews PMID:20301621 included.Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Yorkshire and North East GLH
- Phenotypes
-
- Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
- OMIM
- 613129
- Clinvar variants
- Variants in CTC1
- Penetrance
- None
- Publications
- 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
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_expert_review was removed from gene: CTC1.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to CTC1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_expert_review tag was added to gene: CTC1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts, 612199 to Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CTC1 were set to 27159321; 25527826; 28334938; 20301621; 24357685
Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)Mode of inheritance for gene CTC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene CTC1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to CTC1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CTC1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CTC1 was added gene: CTC1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: CTC1 was set to