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Newborns main panel

Gene: PRPS1

Amber List (moderate evidence)
PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000147224
EnsemblGeneIds (GRCh37): ENSG00000147224
OMIM: 311850, Gene2Phenotype
PRPS1 is in 11 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 33532242 - 1 case PMID: 33294372 - 1 case PMID: 17701896 - 2 families. PMID: 32781272 -4 cases and ref to 24 previous LOF cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
David Bick: I assigned this XLR on spreadsheet - at this point don't think a female would be treated. Not likely to have phenotype as child.
Created: 10 May 2023, 9:02 a.m. | Last Modified: 10 May 2023, 9:02 a.m.
Panel Version: 0.76
Created: 10 May 2023, 9:02 a.m.
Last Modified: 10 May 2023, 9:02 a.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PRPS1. Added phenotypes Arts syndrome for gene: PRPS1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PRPS1. Added phenotypes Arts syndrome for gene: PRPS1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PRPS1. Added phenotypes Arts syndrome for gene: PRPS1 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: PRPS1 was added gene: PRPS1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to Arts syndrome