Heterotaxy

Gene: CFC1

Green List (high evidence)

CFC1 (cripto, FRL-1, cryptic family 1)
EnsemblGeneIds (GRCh38): ENSG00000136698
EnsemblGeneIds (GRCh37): ENSG00000136698
OMIM: 605194, Gene2Phenotype
CFC1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Heterotaxy, visceral, 2, autosomal 605376
OMIM
605194
Clinvar variants
Variants in CFC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfc1 has been classified as Green List (High Evidence).

6 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfc1 has been classified as Green List (High Evidence).

6 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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