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Retinal disorders v2.243 CTC1 Ivone Leong Tag for-review was removed from gene: CTC1.
Retinal disorders v2.243 CTC1 Ivone Leong commented on gene: CTC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 CTC1 Ivone Leong Source Expert Review Green was added to CTC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.60 CTC1 Ivone Leong Classified gene: CTC1 as Amber List (moderate evidence)
Retinal disorders v2.60 CTC1 Ivone Leong Added comment: 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.
Retinal disorders v2.60 CTC1 Ivone Leong Gene: ctc1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.59 CTC1 Ivone Leong Tag for-review tag was added to gene: CTC1.
Retinal disorders v2.59 CTC1 Ivone Leong Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts MIM#612199 to Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199
Retinal disorders v2.17 CTC1 Zornitza Stark 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
Added comment: Retinopathy is a feature of the condition. At least 10 families reported.
Sources: Expert list