PIGN

phosphatidylinositol glycan anchor biosynthesis class N
OMIM: 606097
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MCAHS1
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 614080
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
Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080, Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563
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
Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME
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
PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation), Multiple congenital anomalies-hypotonia-seizures syndrome 1