PHF21A

PHD finger protein 21A
OMIM: 608325, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber PHF21A in Fetal anomalies


Version 3.135
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • POTOCKI-SHAFFER SYNDROME
Green PHF21A in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green PHF21A in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Potocki-Shaffer syndrome, 601224
    • PSS
    • Intellectual disability