Pulmonary fibrosis familial
Gene: CTC1

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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:02 p.m.

Panel Version: 0.2

Created: 16 Feb 2022, 4:02 p.m.
Last Modified: 16 Feb 2022, 4:02 p.m.
Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199

OMIM

613129

Clinvar variants

Variants in CTC1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: CTC1 was added gene: CTC1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 30891747; 33269665 Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199

Pulmonary fibrosis familial Gene: CTC1