PPFIA3

PTPRF interacting protein alpha 3
OMIM: 603144, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PPFIA3 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 Green
Phenotypes
  • Paul-Chao neurodevelopmental syndrome, OMIM:621122
Green PPFIA3 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PPFIA3-related neurodevelopmental disorder
    Tags
    • de novo
    Amber PPFIA3 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 Amber
    • Literature
    Phenotypes
    • Paul-Chao neurodevelopmental syndrome, OMIM:621122
    Tags
    • Q1_26_promote_green