GSPT2

G1 to S phase transition 2
OMIM: 300418, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red GSPT2 in Mendeliome


Version 1.1891

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

Red GSPT2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review Unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland

Red GSPT2 in Fetal anomalies


Version 1.255

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • XL intellectual disability