Familial non syndromic congenital heart disease
Gene: CFC1
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
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.
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
Mode of inheritance for CFC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Publications for CFC1 were set to 11062482
This gene has been classified as Green List (High Evidence).
Promoted to version 1 by Alice Gardham on 26th January
This gene has been classified as Red List (Low Evidence).
CFC1 was created by ellenmcdonagh
CFC1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen