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Rare multisystem ciliopathy disorders

Gene: CFC1

Red List (low evidence)

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

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Heterotaxy not included on this panel
Created: 25 Jan 2017, 12:06 p.m.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Red
  • Expert list
Clinvar variants
Variants in CFC1
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CFC1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

CFC1 was created by ellenmcdonagh