Adult onset leukodystrophy
Gene: CTC1The 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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts, 612199
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
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
Tag Q3_21_expert_review was removed from gene: CTC1.
Source Expert Review Amber was added to CTC1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q3_21_expert_review tag was added to gene: CTC1.
Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts, 612199 to Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
Publications for gene: CTC1 were set to 27159321; 25527826; 28334938; 20301621; 24357685
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
Publications for gene CTC1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to CTC1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to CTC1.
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