Paediatric disorders - additional genes

Gene: GPR101

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - multiple cases with germline variants causing syndromic overgrowth which is within the scope of this panel.

Created: 26 Jun 2026, 1:37 p.m. | Last Modified: 26 Jun 2026, 1:37 p.m.

Panel Version: 8.8

Heterozygous or hemizygous germline variants or somatic duplications in GPR101 lead to X-linked pituitary gigantism/acrogigantism characterised by marked overgrowth in early childhood, often within the first months of life, due to excess of GH. Most patients present with concomitant hyperprolactinaemia. Histopathology shows pituitary hyperplasia or pituitary adenoma with or without associated hyperplasia. At least 30 individuals have been reported to date - mostly females harbouring germline variants, while males typically carry somatic mosaic variants although a small number of males with a germline duplication inherited from their affected mother have also been reported.
Sources: Literature

Created: 26 Jun 2026, 1:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Pituitary adenoma 2, GH-secreting, OMIM:300943

Publications

• 29389097
• 25470569
• 25806920
• 26982009
• 27245663
• 27743704
• 32958754