PIGL

phosphatidylinositol glycan anchor biosynthesis class L
OMIM: 605947
PanelMode of inheritanceDetails
7 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZUNICH NEUROECTODERMAL SYNDROME 280000
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZUNICH NEUROECTODERMAL SYNDROME
R-numbers: R165
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation), CHIME syndrome 280000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome, ZUNICH NEUROECTODERMAL SYNDROME
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHIME syndrome, 280000, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome