1. Genes and Genomic Entities
  2. RBFOX2

RBFOX2

RNA binding fox-1 homolog 2
OMIM: 612149, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber RBFOX2 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
  • Expert Review Amber
Phenotypes
  • Congenital heart disease, MONDO:0005453
  • hypoplastic left heart syndrome, MONDO:0004933
Amber RBFOX2 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, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • ClinGen
    Phenotypes
    • Congenital heart disease, MONDO:0005453
    • hypoplastic left heart syndrome, MONDO:0004933
    Tags
    • Q3_25_promote_green