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


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

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


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    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