KEGG   VARIANT: 2033v1
Entry
2033v1                      Variant                                
Name
EP300 mutation
Type
Loss of function
Gene
EP300  EP300 lysine acetyltransferase [KO:K04498]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602700
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H00504  Rubinstein-Taybi syndrome
H02650  Menke-Hennekam syndrome
Reference
  Authors
Foley P, Bunyan D, Stratton J, Dillon M, Lynch SA
  Title
Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
  Journal
Am J Med Genet A 149A:997-1000 (2009)
DOI:10.1002/ajmg.a.32771
Reference
  Authors
Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M
  Title
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
  Journal
Clin Dysmorphol 25:135-45 (2016)
DOI:10.1097/MCD.0000000000000143
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