CFC1

Gene Facts

• HGNC Symbol: CFC1 (HGNC:18292)
• HGNC Name: cryptic, EGF-CFC family member 1
• Gene type: protein-coding gene
• Locus type: gene with protein product
• Previous symbols: HTX2
• Alias symbols: CRYPTIC
• %HI: 88.86
• pLI: 0.86
• LOEUF: 0.59
• Cytoband: 2q21.1
• Genomic Coordinates:

  GRCh37/hg19:	chr2:131349738-131357148
  GRCh38/hg38:	chr2:130592165-130599575

• MANE Select Transcript: NM_032545.4 ENST00000259216.6
• Function: NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation. {ECO:0000269|PubMed:11062482}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

• Dosage ID: ISCA-872
• ClinGen Curation ID: CCID:006845
• Curation Status: Complete
• Issue Type: Dosage Curation - Gene
• Haploinsufficiency: No Evidence for Haploinsufficiency (0)
• Triplosensitivity: No Evidence for Triplosensitivity (0)
• Last Evaluated: 09/22/2021

Haploinsufficiency (HI) Score Details

• HI Score: 0
• HI Evidence Strength: No Evidence for Haploinsufficiency
• HI Evidence Comments: Bamford (2000, PMID: 11062482): Identified a heterozygous 1-bp deletion (522delC) in CFC1, resulting in a frameshift that terminated 55 codons downstream of the deletion, in 2 unrelated probands with left-right axis abnormalities, one inherited from a phenotypically normal parent. Per gnomAD, this 522delC variant has also been identified in >0.1% of control populations, including Europeans. Goldmuntz (2002, PMID: 11799476) identified the same variant in a proband with double outlet right ventricle. This variant was maternally inherited and the mother had no reported cardiac or laterally phenotypes. At this time, there is no convincing evidence to suggest that haploinsufficiency of CFC1 is associated with disease.

Triplosensitivity (TS) Score Details

• TS Score: 0
• TS Evidence Strength: No Evidence for Triplosensitivity