PCGF2

polycomb group ring finger 2
OMIM: 600346, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PCGF2 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, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DUSBILITY
  • Craniofacial Neurological Cardiovascular and Skeletal Features
  • Intellectual disability
Tags
  • watchlist
Green PCGF2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371
    Green PCGF2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Intellectual disability
    • dysmorphic features
    • Global developmental delay
    • Abnormality of the cardiovascular system
    • Abnormality of the cerebrum
    • Abnormality of the skeletal system