Genomics England
GMS Panels
Panels
Genes and Entities

PIGW

phosphatidylinositol glycan anchor biosynthesis class W
OMIM: 610275
PanelMode of inheritanceDetails
4 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025, hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 11, 616025, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 11, 616025
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Hyperphosphatasia with mental retardation syndrome 5