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  3. PIGN
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Congenital diaphragmatic hernia

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

Created: 11 Sep 2020, 4:18 a.m.
Last Modified: 19 Dec 2020, 8:03 a.m.
Panel version: 0.5

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

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

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080
Tags
SV/CNV founder
OMIM
606097
Clinvar variants
Variants in PIGN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2020, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: PIGN. Tag founder tag was added to gene: PIGN.

11 Sep 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).

11 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Sep 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).

11 Sep 2020, Gel status: 0

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

Andrew Fennell (Monash Genetics)

gene: PIGN was added gene: PIGN was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGN were set to PMID: 27038415; 24852103 Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1 Penetrance for gene: PIGN were set to Complete Review for gene: PIGN was set to GREEN