1. Panels
  2. Congenital disorders of glycosylation
  3. PIGN
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital disorders of glycosylation

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 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 11 variants reported.
Created: 19 Dec 2016, 2:36 p.m.
Created: 19 Dec 2016, 2:36 p.m.

Panel version: 0.138

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 13 Dec 2016, 5:23 p.m.

Panel version: 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080
OMIM
606097
Clinvar variants
Variants in PIGN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

PIGN was added to Congenital disorders of glycosylationpanel. Sources: UKGTN

19 Dec 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080

19 Dec 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PIGN were set to 21493957; 26419326

19 Dec 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PIGN was changed to BIALLELIC, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

PIGN was added to Congenital disorders of glycosylationpanel. Sources: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PIGN was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PIGN was created by sleigh