KEGG   VARIANT: 51256v1
Entry
51256v1                      Variant                               
Name
TBC1D7 mutation
Type
Loss of function
Gene
TBC1D7  TBC1 domain family member 7 [KO:K20396]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612655
Network
nt06522  mTOR signaling
Disease
H02446  Autosomal recessive macrocephaly/megalencephaly syndrome
Reference
PMID:23687350
  Authors
Capo-Chichi JM, Tcherkezian J, Hamdan FF, Decarie JC, Dobrzeniecka S, Patry L, Nadon MA, Mucha BE, Major P, Shevell M, Bencheikh BO, Joober R, Samuels ME, Rouleau GA, Roux PP, Michaud JL
  Title
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
  Journal
J Med Genet 50:740-4 (2013)
DOI:10.1136/jmedgenet-2013-101680
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