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Fetal anomalies

Gene: PAICS

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function.
Created: 31 Jan 2022, 7:17 a.m. | Last Modified: 31 Jan 2022, 7:17 a.m.
Panel Version: 0.2978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyhydramnios; multiple congenital abnormalities

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Polyhydramnios
  • multiple congenital abnormalities
  • early neonatal death
OMIM
172439
Clinvar variants
Variants in PAICS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: paics has been classified as Red List (Low Evidence).

31 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: paics has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAICS was added gene: PAICS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp 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; early neonatal death