Ductal plate malformation

Gene: CTC1

Red List (low evidence)

CTC1 (CST telomere replication complex component 1)
EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 18 panels

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History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Demoted from amber to red as i

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: CTC1 was added gene: CTC1 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services 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)