Activity
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| Paediatric disorders - additional genes v8.8 | GPR101 | Arina Puzriakova Classified gene: GPR101 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.8 | GPR101 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.8 | GPR101 | Arina Puzriakova Gene: gpr101 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.7 | GPR101 |
Arina Puzriakova gene: GPR101 was added gene: GPR101 was added to Paediatric disorders - additional genes. Sources: Literature Q2_26_promote_green tags were added to gene: GPR101. Mode of inheritance for gene: GPR101 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GPR101 were set to 29389097; 25470569; 25806920; 26982009; 27245663; 27743704; 32958754 Phenotypes for gene: GPR101 were set to Pituitary adenoma 2, GH-secreting, OMIM:300943 Review for gene: GPR101 was set to GREEN Added comment: 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 |
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