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Intellectual disability syndromic and non-syndromic

Gene: PIGN

Green List (high evidence)

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, 8:05 a.m. | Last Modified: 19 Dec 2020, 8:05 a.m.
Panel Version: 0.3296

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

History Filter Activity

19 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pign has been classified as Green List (High Evidence).

19 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIGN were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563

19 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGN were set to

19 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGN was added gene: PIGN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGN was set to Unknown