CITED2

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CITED2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrial septal defect 8, 614433
  • Ventricular septal defect 2, 614431

Green CITED2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrial septal defect 8 - MIM#614433
  • Ventricular septal defect 2 - MIM#614431

Red CITED2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Congenital heart defects

Green CITED2 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Atrial septal defect 8 - MIM#614433
  • Ventricular septal defect 2 - MIM#614431
  • Congenital heart disease

Red CITED2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart defects