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Fetal anomalies

Gene: PIGY

Amber List (moderate evidence)
PIGY (phosphatidylinositol glycan anchor biosynthesis class Y)
EnsemblGeneIds (GRCh38): ENSG00000255072
EnsemblGeneIds (GRCh37): ENSG00000255072
OMIM: 610662, Gene2Phenotype
PIGY is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Four cases from two families with homozygous variants reported, one missense and one promoter variant, both associated with reduced expression (PMID: 26293662). Missense variant associated with severe multisystem disorder including polyhydramnios, renal abnormality, dysmorphic features, proximal limb shortening, flexion contractures, hip dysplasia, and osteopenia. Promoter variant associated with milder phenotype. Prenatally relevant but only two families reported, insufficient for green rating.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with impaired intellectual development syndrome 6, MIM#616809

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Glycosylphosphatidylinositol deficiency
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hyperphosphatasia with impaired intellectual development syndrome 6, OMIM:616809
  • Glycosylphosphatidylinositol deficiency
OMIM
610662
Clinvar variants
Variants in PIGY
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to PIGY. Added phenotypes Hyperphosphatasia with impaired intellectual development syndrome 6, OMIM:616809 for gene: PIGY Publications for gene: PIGY were updated from to 26293662; 38790248

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PIGY was added gene: PIGY was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency