PIGP

phosphatidylinositol glycan anchor biosynthesis class P
OMIM: 605938
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 55, OMIM:617599
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 55, OMIM:617599
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 55, OMIM:617599