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Additional findings_Paediatric

Gene: CTC1

Green List (high evidence)

CTC1 (CST telomere replication complex component 1)
EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 14 panels

0 reviews

History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Coats plus syndrome for gene: CTC1

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTC1 was added gene: CTC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTC1 were set to Coats plus syndrome