1. Genes and Genomic Entities
  2. ZNF148

ZNF148

zinc finger protein 148
OMIM: 601897, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber ZNF148 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260
Tags
  • Q3_26_promote_green
Green ZNF148 in DDG2P


Version 8.2
Latest signed off version: v8.0 (12 Aug 2026)

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 11.86
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260
    • global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, MONDO:0014994
    Tags
    • Q4_26_promote_green