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Paediatric disorders - additional genes

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

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Meets criteria for green rating in 100K - awaiting higher level sign off for GMS indication
Created: 7 Aug 2019, 1:55 p.m. | Last Modified: 7 Aug 2019, 1:55 p.m.
Panel Version: 0.28
Three unrelated cases with laterality defects with two LOF mutations in PMID 11062482. Also PMID 11799476 reports two cases with congenital cardiac malformations (TGA/DORV). Considered sufficient cases for inclusion.
Sources: Literature
Created: 7 Aug 2019, 1:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Heterotaxy, visceral, 2, autosomal 605376

Publications

Created: 7 Aug 2019, 1:54 p.m.

Panel version: 0.27

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 2, autosomal 605376
OMIM
605194
Clinvar variants
Variants in CFC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

7 Aug 2019, Gel status: 1

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

Helen Brittain (Genomics England Curator)

gene: CFC1 was added gene: CFC1 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CFC1 were set to 11062482; 11799476 Phenotypes for gene: CFC1 were set to Heterotaxy, visceral, 2, autosomal 605376 Review for gene: CFC1 was set to GREEN