ZNF462

zinc finger protein 462
OMIM: 617371, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ZNF462 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
  • Weiss-Kruszka syndrome, OMIM:618619
  • Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Green ZNF462 in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Weiss-Kruszka syndrome, OMIM:618619
  • weiss-kruszka syndrome, MONDO:0032836
Green ZNF462 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
    • Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
    Green ZNF462 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    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
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Prominent metopic ridge
    • Ptosis
    • Ptosis, Prominent metopic ridge, Craniosynostosis, Global developmental delay, Intellectual disability, Autistic behavior
    • Intellectual disability
    • Global developmental delay
    • Craniosynostosis
    • Autistic behavior