KEGG   VARIANT: 4953v1
Entry
4953v1                      Variant                                
Name
ODC1 mutation
Type
Gain of function
Gene
ODC1  ornithine decarboxylase 1 [KO:K01581]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 165640
Network
nt06033  Glycine, serine and arginine metabolism
Disease
H02919  Bachmann-Bupp syndrome
Reference
  Authors
Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT
  Title
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and  neuroimaging abnormalities.
  Journal
Am J Med Genet A 176:2554-2560 (2018)
DOI:10.1002/ajmg.a.60677
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