Ciliopathies
Gene: CFC1
PMID: 31633655 - 1 patient with a heterozygous missense, paternally inherited. The proband has situs inversus with biliary atresia, while the father did not have biliary atresia but DID have situs inversus
PMID: 18162845 - recurring missense (p.Ala145Thr) reported in 5 patients with biliary atresia splenic malformation syndrome. Authors conclude the variant may not be completely causative but create a predisposition to the syndrome. This variant has 145 hets in the population (gnomAD) but with strong strand bias - may not be real.
PMID: 25423076 - 8 patients reported with heterotaxy and CNVs resulting in the deletion of CFC1. Clear breakpoints not mentioned, but CNVs are suggestive to be multigenic.
PMID: 11062482 - 9 heterozygous patients with mostly missense but also one PTC. Null zebrafish model recapitulate the mutant phenotype, could not be rescued by 2 mutant mRNA.
Summary: NOT ciliopathyCreated: 6 May 2020, 1:59 a.m. | Last Modified: 6 May 2020, 1:59 a.m.
Panel Version: 0.103
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Heterotaxy, visceral, 2, autosomal 605376
Publications
Gene: cfc1 has been classified as Red List (Low Evidence).
Phenotypes for gene: CFC1 were changed from to Heterotaxy, visceral, 2, autosomal 605376
Publications for gene: CFC1 were set to
Mode of inheritance for gene: CFC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: cfc1 has been classified as Red List (Low Evidence).
gene: CFC1 was added gene: CFC1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFC1 was set to Unknown