KEGG   NETWORK: N00294
Entry
N00294                      Network                                

Name
Mutation-activated GCM2 to transcription
Definition
GCM2* => PTH
  Expanded
9247v2 => 5741
Class
nt06318 CaSR-PTH signaling
Type
Variant
Disease
H00246  Primary hyperparathyroidism
Gene
9247  GCM2; glial cells missing homolog 2
5741  PTH; parathyroid hormone
Variant
9247v2 (GCM2*)  GCM2 activating mutation
Reference
  Authors
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK
  Title
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
  Journal
Am J Hum Genet 99:1034-1044 (2016)
DOI:10.1016/j.ajhg.2016.08.018
Reference
  Authors
El Lakis M, Nockel P, Guan B, Agarwal S, Welch J, Simonds WF, Marx S, Li Y, Nilubol N, Patel D, Yang L, Merkel R, Kebebew E
  Title
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure.
  Journal
Surgery 163:31-34 (2018)
DOI:10.1016/j.surg.2017.04.027
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