1. Genes and Genomic Entities
  2. PHF5A

PHF5A

PHD finger protein 5A
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PHF5A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.184
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
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • gene-checked
Green PHF5A in DDG2P


Version 6.447
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
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • gene-checked
    Amber PHF5A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.353
    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
    • PHF5A-related neurodevelopmental disorder with congenital malformations
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q1_26_promote_green
    • gene-checked