ZNF462

zinc finger protein 462
OMIM: 617371, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red ZNF462 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Amber ZNF462 in Fetal anomalies


Version 1.905
Latest signed off version: v1.92 (21 Aug 2020)

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 Craniosynostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Weiss-Kruszka syndrome, OMIM:618619
  • weiss-kruszka syndrome, MONDO:0032836

Amber ZNF462 in DDG2P


Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

    Green ZNF462 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.127

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