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  3. PIGS
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Fetal anomalies

Gene: PIGS

Green List (high evidence)
PIGS (phosphatidylinositol glycan anchor biosynthesis class S)
EnsemblGeneIds (GRCh38): ENSG00000087111
EnsemblGeneIds (GRCh37): ENSG00000087111
OMIM: 610271, Gene2Phenotype
PIGS is in 7 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

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

Green List (high evidence)

Biallelic variants reported in association with multiple joint contractures consistent with fetal akinesia in two fetuses from one family (30269814), with one fetus also having thickened nuchal fold, and the other glomerular cysts and a cystic hygroma. Biallelic variants reported in multiple other families in association with postnatal neurodevelopmental phenotypes plus variable additional findings including structural brain abnormalities, microcephaly, renal malformations, ventricular septal defect, hand anomalies and facial dysmorphism (30269814, 37035392, 33410539, 32612635).
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
Developmental and epileptic encephalopathy 95, MIM#618143

Publications

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

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Created: 22 Aug 2022, 4:12 p.m. | Last Modified: 22 Aug 2022, 4:12 p.m.
Panel Version: 1.951
Created: 22 Aug 2022, 4:12 p.m.
Last Modified: 22 Aug 2022, 4:12 p.m.
Panel version: 1.951

Rhiannon Mellis (Great Ormond Street Hospital)

I don't know

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Currently red/amber on some other panels but reviewed on Congenital disorders of glycosylation panel as having sufficient evidence for green rating at next major review, in light of this same paper (PMID: 30269814). Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to intellectual disability/epileptic encephalopathy. Fetal akinesia phenotype may be relevant for fetal anomalies panel.
Sources: Expert Review, Literature
Created: 11 Aug 2022, 1:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 95

Publications

Created: 11 Aug 2022, 1:54 p.m.

Panel version: 1.900

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Developmental and epileptic encephalopathy 95, OMIM:618143
OMIM
610271
Clinvar variants
Variants in PIGS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: PIGS. Tag Q1_25_ promote_green was removed from gene: PIGS.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PIGS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: PIGS. Tag Q1_25_ promote_green tag was added to gene: PIGS.

20 Feb 2025, Gel status: 2

Added New Source, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to PIGS. Publications for gene: PIGS were updated from 30269814 to 30269814; 37035392; 33410539

22 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PIGS were set to PMID: 30269814

22 Aug 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PIGS were changed from Developmental and epileptic encephalopathy 95 to Developmental and epileptic encephalopathy 95, OMIM:618143

22 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pigs has been classified as Amber List (Moderate Evidence).

11 Aug 2022, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: PIGS was added gene: PIGS was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to PMID: 30269814 Phenotypes for gene: PIGS were set to Developmental and epileptic encephalopathy 95 Review for gene: PIGS was set to AMBER