Paediatric or syndromic cardiomyopathy
Gene: CTF1EnsemblGeneIds (GRCh38): ENSG00000150281
EnsemblGeneIds (GRCh37): ENSG00000150281
OMIM: 600435, Gene2Phenotype
CTF1 is in 2 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- OMIM
- 600435
- Clinvar variants
- Variants in CTF1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CTF1.
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: CTF1 was added gene: CTF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH Mode of inheritance for gene: CTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown