Dilated Cardiomyopathy and conduction defects
Gene: CTF1EnsemblGeneIds (GRCh38): ENSG00000150281
EnsemblGeneIds (GRCh37): ENSG00000150281
OMIM: 600435, Gene2Phenotype
CTF1 is in 2 panels
2 reviews
Rebecca Whittington (South West GLH)
Phenotype not listed on OMIM. DCMCreated: 25 Mar 2019, 4:30 p.m.
Only one DM report on HGMD: Erdmann (2000) Hum Mutat 16: 448 PubMed: 11058912 with DCM.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- OMIM
- 600435
- Clinvar variants
- Variants in CTF1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to CTF1. Mode of inheritance for gene CTF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CTF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)CTF1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)CTF1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list