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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.
Created: 11 Sep 2020, 4:18 a.m. | Last Modified: 19 Dec 2020, 8:03 a.m.
Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080

Andrew Fennell (Monash Genetics)

Green List (high evidence)

Sources: Literature
Created: 11 Sep 2020, 1:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 1

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080
OMIM
606097
Clinvar variants
Variants in PIGN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, 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).

1 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGN were set to

1 Feb 2022, 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).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGN was added gene: PIGN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563; Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080