KEGG   VARIANT: 2917v1
Entry
2917v1                      Variant                                
Name
GRM7 mutation
Type
Loss of function
Gene
GRM7  glutamate metabotropic receptor 7 [KO:K04609]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604101
Network
nt06544  Neuroactive ligand signaling
Disease
H02886  Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Reference
PMID:32286009
  Authors
Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR
  Title
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
  Journal
Ann Clin Transl Neurol 7:610-627 (2020)
DOI:10.1002/acn3.51003
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