Genomics England
GMS Panels
Panels
Genes and Entities
GSPT2
G1 to S phase transition 2
OMIM:
300418
See this entity in PanelApp
Panel
Mode of inheritance
Details
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in
DDG2P
Component of the following Super Panels:
- Paediatric disorders
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
XL INTELLECTUAL DISABILITY