Genomics England
GMS Panels
Panels
Genes and Entities

PIGH

phosphatidylinositol glycan anchor biosynthesis class H
OMIM: 600154
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 17, 618010, epilepsy, febrile seizures
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect, 17 OMIM:618010, Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures