Genomics England
GMS Panels
Panels
Genes and Entities

PIGL

phosphatidylinositol glycan anchor biosynthesis class L
OMIM: 605947
PanelMode of inheritanceDetails
7 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHIME syndrome 280000, PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZUNICH NEUROECTODERMAL SYNDROME 280000
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZUNICH NEUROECTODERMAL SYNDROME
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHIME syndrome, OMIM:280000
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
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome, ZUNICH NEUROECTODERMAL SYNDROME
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation), CHIME syndrome 280000
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHIME syndrome, 280000, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome