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  3. PAICS
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Fetal anomalies

Gene: PAICS

Green List (high evidence)
PAICS (phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase)
EnsemblGeneIds (GRCh38): ENSG00000128050
EnsemblGeneIds (GRCh37): ENSG00000128050
OMIM: 172439, Gene2Phenotype
PAICS is in 2 panels

5 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: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: OMIM phenotype (Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859) accessed on 17-12-2025
Created: 17 Dec 2025, 11:44 a.m. | Last Modified: 17 Dec 2025, 11:44 a.m.
Panel Version: 6.123
There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
3 patients with recurrent pathogenic variant NM_001079524.2:c.158A > G p.(Lys53Arg). Boission et al May 25 PMID: 39726239 - 2 pregnancies with antenatally detected complex congenital heart disease + oesophageal atresia/stenosis, 1 liveborn with this variant, 1 TOP untested. Variant reported by Pelet et al 2019 PMID: 31600779 in 2 unrelated pregancies with structural anomalies detected antenatally (lung malformations, oesophageal atresia, IUGR).
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added to the panel and rated Red by Zornitza. Phenotype is appropriate for the panel, but insufficient cases to support causation. Therefore rated Amber, awaiting further publications/clinical evidence. Not yet associated with a disorder in Gene2Phenotype.
Created: 5 May 2020, 2:24 p.m. | Last Modified: 5 May 2020, 2:24 p.m.
Panel Version: 1.38
PMID:31600779. Pelet et al. report an AR inborn error of de novo purine synthesis due to homozygous missense variant in PAICS (c.158A>G; p.Lys53Arg) in 2 siblings from the Faroe islands. Catalytic activity of the mutant protein was approx 25% of wild type levels. The siblings had multiple malformations resulting in early neonatal death.
Created: 5 May 2020, 2:23 p.m. | Last Modified: 5 May 2020, 2:23 p.m.
Panel Version: 1.36
Created: 5 May 2020, 2:23 p.m.
Last Modified: 5 May 2020, 2:23 p.m.
Panel version: 1.36

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function.
Sources: Literature
Created: 25 Apr 2020, 6:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyhydramnios; multiple congenital abnormalities

Publications

Created: 25 Apr 2020, 6:59 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859
  • Polyhydramnios
  • multiple congenital abnormalities
  • early neonatal death
OMIM
172439
Clinvar variants
Variants in PAICS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jan 2026, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PAICS were set to 31178128; 31600779; 3965093; 38179855; 30758658

17 Dec 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PAICS were changed from Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Polyhydramnios; multiple congenital abnormalities; early neonatal death to Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859; Polyhydramnios; multiple congenital abnormalities; early neonatal death

16 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: PAICS. Tag Q3_25_NHS_review was removed from gene: PAICS.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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

8 Sep 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: PAICS. Tag Q3_25_NHS_review tag was added to gene: PAICS.

5 Sep 2025, Gel status: 2

Set Phenotypes, Set publications

Arina Puzriakova (Genomics England Curator)

Added phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 for gene: PAICS Publications for gene: PAICS were updated from 31600779 to 31178128; 31600779; 3965093; 38179855; 30758658

5 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

5 May 2020, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities to Polyhydramnios; multiple congenital abnormalities; early neonatal death

25 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PAICS was added gene: PAICS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAICS were set to 31600779 Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities Review for gene: PAICS was set to RED