1. Genes and Genomic Entities
  2. ZNF462

ZNF462

zinc finger protein 462
OMIM: 617371, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red ZNF462 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Amber ZNF462 in Fetal anomalies


Version 3.155
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
  • Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Green ZNF462 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0 (22 Mar 2023)

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 3.87
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
    • Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
    Green ZNF462 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    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
    • 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
    Green ZNF462 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Weiss-Kruszka syndrome, 618619