Familial non syndromic congenital heart disease
Gene: CFC1EnsemblGeneIds (GRCh38): ENSG00000136698
EnsemblGeneIds (GRCh37): ENSG00000136698
OMIM: 605194, Gene2Phenotype
CFC1 is in 6 panels
4 reviews
Bernard Keavney (The University of Manchester)
Helen Brittain (Genomics England Curator)
Comment on list classification: Sufficient evidence in relation to heterotaxy phenotype. Therefore promoted to green.Created: 4 Jul 2017, 7:40 a.m.
Three (/?four) unrelated laterality cases with two LOF mutations in listed PMID. Considered sufficient cases for inclusion.Created: 4 Jul 2017, 7:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Heterotaxy, visceral, 2, autosomal, 605376; Visceral Heterotaxy, Heterotaxy, Visceral, 2, Autosomal
Publications
Alice Gardham (Genomics England)
Comment when marking as ready: Only reported in a few individuals in one paper and with reduced penetrance. Offered on Exeter heterotaxy panel.Created: 28 Nov 2016, 12:09 p.m.
Ellen McDonagh (Genomics England Curator)
This is a probable DD gene for CFC1-related conotruncal heart malformations.Created: 22 Jul 2016, 8:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Heterotaxy, visceral, 2, autosomal, 605376
- OMIM
- 605194
- Clinvar variants
- Variants in CFC1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CFC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for CFC1 were set to 11062482
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Created
Ellen McDonagh (Genomics England Curator)CFC1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CFC1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen