KEGG   VARIANT: 5593v1
Entry
5593v1                      Variant                                
Name
PRKG2 mutation
Type
Loss of function
Gene
PRKG2  protein kinase cGMP-dependent 2 [KO:K19477]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601591
Network
nt06325  Hormone/cytokine signaling
Disease
H02185  Spondylometaphyseal dysplasia
H02543  Acromesomelic dysplasia
Reference
  Authors
Diaz-Gonzalez F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montane L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldan B, Nishimura G, Offiah AC, Faruq M, Heath KE
  Title
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
  Journal
J Med Genet jmedgenet-2020-107177 (2020)
DOI:10.1136/jmedgenet-2020-107177
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