1. Genes and Genomic Entities
  2. PHF12

PHF12

PHD finger protein 12
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green PHF12 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
    • MONDO:0700092
    • PHF12-related developmental disorder
    Amber PHF12 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
    • ClinGen
    Phenotypes
    • complex neurodevelopmental disorder, MONDO:0100038
    Tags
    • Q1_26_promote_green
    • Q1_26_NHS_review