×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
BEFREE
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN -related disease.
29096607
2017
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
BEFREE
A homozygous mutation in PIGN , a member of genes involved in the GPI anchor-synthesis pathway, was previously reported to cause dysmorphic features , multiple congenital anomalies, severe neurological impairment, and seizure in a consanguineous family.
24253414
2014
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
26419326
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
25920937
2015
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
26879448
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
26394714
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
24253414
2014
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
27038415
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.
10574991
1999
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
21493957
2011
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress.
18635593
2008
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
26364997
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.
24852103
2014
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
25920937
2015
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress.
18635593
2008
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
26364997
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
26419326
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.
10574991
1999
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
26879448
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
21493957
2011
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
24253414
2014
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
26394714
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.
24852103
2014
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
27038415
2016