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DDG2P

Gene: PIGS

Amber List (moderate evidence)

PIGS (phosphatidylinositol glycan anchor biosynthesis class S)
EnsemblGeneIds (GRCh38): ENSG00000087111
EnsemblGeneIds (GRCh37): ENSG00000087111
OMIM: 610271, Gene2Phenotype
PIGS is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Created: 22 Apr 2019, 7:34 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy
OMIM
610271
Clinvar variants
Variants in PIGS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PIGS was added gene: PIGS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to 30269814 Phenotypes for gene: PIGS were set to Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy