Leukodystrophy - adult onset
Gene: CTC1EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Onset is typically in childhood. Mild phenotype in 15yo reported in PMID 22532422.Created: 27 Apr 2020, 5:44 a.m. | Last Modified: 27 Apr 2020, 5:44 a.m.
Panel Version: 0.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Cerebroretinal microangiopathy with calcifications and cysts, 612199
- OMIM
- 613129
- Clinvar variants
- Variants in CTC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Brain Calcification
- IBMDx study
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Syndromic Retinopathy
- Intellectual disability syndromic and non-syndromic
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ctc1 has been classified as Amber List (Moderate Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CTC1 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ctc1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CTC1 was added gene: CTC1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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