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  3. CFC1
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Fetal anomalies

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 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [CFC1 should be on the Fetal anomalies panel]. The phenotype would easily be seen on ultrasound scan and such a result would give the parents good information about the pregnancy and also help allow variant interpretation. It would let them know that the intellect is likely normal and they can then concentrate on the particular cardiac problem only. If incidentally identified, ultrasound scans can be offered in pregnancy. Also, one of the patients [in PMID:11062482] had an absent corpus callosum, although it may have been an incidental finding.
Created: 11 Feb 2019, 9:42 a.m.
Further information on evidence for Green rating: Reviewed as Green on the 'Familial non syndromic congenital heart disease' panel in relation to heterotaxy phenotype. There are >3 cases in OMIM to support causation of Heterotaxy from a 2000 paper (PMID:11062482) and 2002 paper (PMID:11799476) but incomplete penetrance (with a phenotypically-normal parent carrying the variant) was seen in two cases, and no more recent published evidence.
Created: 11 Feb 2019, 9:37 a.m.
Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Created: 18 Dec 2018, 9:04 p.m.
DDG2P rating in original PAGE list: Probable for CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.161

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS
  • Heterotaxy, visceral, 2, autosomal, 605376
OMIM
605194
Clinvar variants
Variants in CFC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Feb 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CFC1 were set to

11 Feb 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CFC1 were changed from CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS; Heterotaxy, visceral, 2, autosomal, 605376

18 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CFC1 was added gene: CFC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CFC1 were set to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS