1. Genes and Genomic Entities
  2. PHF21A

PHF21A

PHD finger protein 21A
OMIM: 608325, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PHF21A 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
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725
Green PHF21A 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
    • POTOCKI-SHAFFER SYNDROME 601224
    Green PHF21A 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, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Potocki-Shaffer syndrome, 601224
    • PSS
    • Intellectual disability
    • Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725
    Tags
    • deletions