GSPT2

G1 to S phase transition 2
OMIM: 300418, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red GSPT2 in Mendeliome


Version 1.3802

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Intellectual disability MONDO:0001071, GSPT2-related

Red GSPT2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability MONDO:0001071, GSPT2-related

Red GSPT2 in Fetal anomalies


Version 1.482

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability MONDO:0001071, GSPT2-related