KEGG   VARIANT: 79813v1
Entry
79813v1                      Variant                               
Name
EHMT1 mutation
Type
Loss of function
Gene
EHMT1  euchromatic histone lysine methyltransferase 1 [KO:K11420]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607001
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H00907  Kleefstra syndrome
Reference
PMID:16826528
  Authors
Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Genevieve D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H
  Title
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
  Journal
Am J Hum Genet 79:370-7 (2006)
DOI:10.1086/505693
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