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Fetal anomalies

Gene: PRPS1

Red List (low evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Seems progressive. Action taken: Demoted PRPS1 gene rating from Green to Red.
Created: 1 Apr 2019, 11:26 a.m.
DDG2P rating in original PAGE list: Confirmed for CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, Confirmed for DEAFNESS X-LINKED TYPE 1, Confirmed for PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY and Confirmed for ARTS SYNDROME.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for ARTS SYNDROME and CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, and listed as Uncertain for DEAFNESS X-LINKED TYPE 1. MOP listed as Activating for PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY.
Created: 8 Nov 2018, 4:45 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
  • ARTS SYNDROME
  • CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5
  • DEAFNESS X-LINKED TYPE 1
OMIM
311850
Clinvar variants
Variants in PRPS1
Penetrance
None
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to PRPS1. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ARTS SYNDROME for gene: PRPS1

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY for gene: PRPS1

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes DEAFNESS X-LINKED TYPE 1 for gene: PRPS1

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PRPS1 was added gene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype 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 CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5