1. Genes and Genomic Entities
  2. ZNF148

ZNF148

zinc finger protein 148
OMIM: 601897, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ZNF148 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
    • ZNF148-related developmental disorder (monoallelic)
    Amber ZNF148 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 Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260