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Retinal disorders

Gene: CTC1

Amber List (moderate evidence)

CTC1 (CST telomere replication complex component 1)
EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 17 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Retinopathy is a feature of the condition. At least 10 families reported.
Sources: Expert list
Created: 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

History Filter Activity

6 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ctc1 has been classified as Amber List (Moderate Evidence).

6 Jan 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: CTC1.

6 Jan 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts MIM#612199 to Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199

10 Oct 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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