PHF5A

PHD finger protein 5A
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green PHF5A 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
  • PHF5A-related neurodevelopmental disorder with congenital malformations
Tags
  • gene-checked
Green PHF5A 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
    • PHF5A-related neurodevelopmental disorder with congenital malformations
    Tags
    • gene-checked