PIGA

phosphatidylinositol glycan anchor biosynthesis class A
OMIM: 311770
PanelMode of inheritanceDetails
7 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868, PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 300868
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868, PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MCAHS2
Green
in Thrombophilia
R-numbers: R97
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
300818 Paroxysmal nocturnal hemoglobinuria, somatic