KEGG   VARIANT: 23556v1
Entry
23556v1                      Variant                               
Name
PIGN deficiency
Type
Loss of function
Gene
PIGN  phosphatidylinositol glycan anchor biosynthesis class N [KO:K05285]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606097
Network
nt06018  GPI-anchor biosynthesis
Disease
H01486  Multiple congenital anomalies-hypotonia-seizures syndrome
Reference
PMID:21493957
  Authors
Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L
  Title
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
  Journal
J Med Genet 48:383-9 (2011)
DOI:10.1136/jmg.2010.087114
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