Retinal disorders
Gene: CTC1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 6 Jan 2021, 2:20 p.m. | Last Modified: 6 Jan 2021, 2:20 p.m.
Panel Version: 2.60
Retinopathy is a feature of the condition. At least 10 families reported.
Sources: Expert listCreated: 10 Oct 2020, 7:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts MIM#612199
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: CTC1.
Source Expert Review Green was added to CTC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ctc1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: CTC1.
Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts MIM#612199 to Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
gene: CTC1 was added gene: CTC1 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22267198 Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts MIM#612199 Review for gene: CTC1 was set to GREEN gene: CTC1 was marked as current diagnostic