1. Genes and Genomic Entities
  2. SZT2

SZT2

SZT2, KICSTOR complex subunit
OMIM: 615463, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber SZT2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM
Green SZT2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM
    Green SZT2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    Phenotypes
    • Epileptic encephalopathy, early infantile, 18,
    Green SZT2 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Epileptic encephalopathy, early infantile, 18, 615476
    • developmental delay
    • non-syndromic intellectual disability
    • absent developmental milestones