CFC1

cripto, FRL-1, cryptic family 1
OMIM: 605194, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green CFC1 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.86

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Heterotaxy, visceral, 2, autosomal, 605376
Amber CFC1 in Laterality disorders and isomerism


Version 3.15
Latest signed off version: v3.9 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 2, autosomal, OMIM:605376
Green CFC1 in Fetal anomalies


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

review 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
Green CFC1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS 319372
    Green CFC1 in Paediatric disorders - additional genes


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Heterotaxy, visceral, 2, autosomal 605376
    Red CFC1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert list
    Green CFC1 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Heterotaxy, visceral, 2, autosomal, 605376