KEGG   VARIANT: 5283v1
Entry
5283v1                      Variant                                
Name
PIGH deficiency
Type
Loss of function
Gene
PIGH  phosphatidylinositol glycan anchor biosynthesis class H [KO:K03858]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600154
Network
nt06018  GPI-anchor biosynthesis
Disease
H01489  Inherited glycosylphosphatidylinositol deficiencies
Reference
PMID:29573052
  Authors
Pagnamenta AT, Murakami Y, Anzilotti C, Titheradge H, Oates AJ, Morton J, Kinoshita T, Kini U, Taylor JC
  Title
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
  Journal
Hum Mutat 39:822-826 (2018)
DOI:10.1002/humu.23420
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