Genetic Epilepsy
Gene: PIGN

PIGN (phosphatidylinositol glycan anchor biosynthesis class N)
EnsemblGeneIds (GRCh38): ENSG00000197563
EnsemblGeneIds (GRCh37): ENSG00000197563
OMIM: 606097, Gene2Phenotype
PIGN is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterised by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. More than 10 unrelated families reported. Typically missense variants or compound het missense with truncating variants.
Created: 19 Dec 2020, 8:01 a.m. | Last Modified: 19 Dec 2020, 8:01 a.m.

Panel Version: 0.963

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563

Publications

Created: 19 Dec 2020, 8:01 a.m.
Last Modified: 19 Dec 2020, 8:01 a.m.
Panel version: 0.963

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563

OMIM

606097

Clinvar variants

Variants in PIGN

Penetrance

None

Publications

Panels with this gene