GSPT2

G1 to S phase transition 2
OMIM: 300418, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber GSPT2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.11
Latest signed off version: v7.0 (6 May 2026)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • XL INTELLECTUAL DISABILITY
Red GSPT2 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • XL INTELLECTUAL DISABILITY
    Tags
    • gene-checked
    Red GSPT2 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    Phenotypes
    • XL INTELLECTUAL DISABILITY
    Tags
    • watchlist