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| Heterotaxy v0.27 | CFC1 | Zornitza Stark Marked gene: CFC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.27 | CFC1 | Zornitza Stark Gene: cfc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.27 | CFC1 | Zornitza Stark Classified gene: CFC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.27 | CFC1 | Zornitza Stark Gene: cfc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.26 | CFC1 |
Zornitza Stark gene: CFC1 was added gene: CFC1 was added to Heterotaxy. Sources: Expert list Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CFC1 were set to 31633655; 18162845; 25423076; 11062482 Phenotypes for gene: CFC1 were set to Heterotaxy, visceral, 2, autosomal 605376 Review for gene: CFC1 was set to GREEN Added comment: 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 |
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