CITED2

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
OMIM: 602937, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red CITED2 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Atrial septal defect, 8 614433, Ventricular septal defect 2, 614431
Amber CITED2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Atrial septal defect 8, OMIM:614433
  • Ventricular septal defect 2, OMIM:614431
  • Congenital heart disease
Red CITED2 in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.31
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    Phenotypes
    • Atrial septal defect 8
    • Ventricular septal defect 2