Heterotaxy

Gene: CFC1

Green List (high evidence)

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.
Sources: Expert list

Created: 6 May 2020, 10:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Heterotaxy, visceral, 2, autosomal 605376

Publications

• 31633655
• 18162845
• 25423076
• 11062482