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Hearing loss

Gene: PRPS1

Green List (high evidence)

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

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:46 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Inheritance: X-linked
Created: 10 Apr 2018, 3:34 p.m.

Mode of inheritance
Other

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Variants in this GENE are reported as part of current diagnostic practice

Jun Shen (Harvard Medical School)

Inheritance:X-linked;X-linked recessive
Created: 9 Feb 2016, 10:06 a.m.
Inheritance:X-linked recessive;X-linked
Created: 7 Feb 2016, 4:52 p.m.
Inheritance:X-linked;X-linked recessive
Created: 7 Feb 2016, 3:42 p.m.
Inheritance:X-linked,X-linked recessive
Created: 7 Feb 2016, 9:25 a.m.
Inheritance:X-linked
Created: 7 Feb 2016, 8:57 a.m.

Mode of inheritance
Other

Phenotypes
#300661:Phosphoribosylpyrophosphate synthetase superactivity[Sensorineural hearing loss (early-onset form); Uric acid urolithiasisSecondary renal insufficiency; GoutGouty arthritis; Neurodevelopmental impairment (early-onset form)Hypotonia (early-onset form)Locomotor delay (early-onset form)Mental retardation (early-onset form)Ataxia (early-onset form); Overproduction of uric acid and purines; HyperuricemiaHyperuricosuriaIncreased activity of the PRPP synthetase 1 enzyme]; #301835:Arts syndrome[Poor growth; Hearing impairment, sensorineural; Optic atrophyLoss of visionNystagmus; Drooling; Recurrent respiratory tract infections; Dysphagia; Hypotonia, neonatalMuscle weakness, progressive; Delayed psychomotor developmentMental retardationLack of speechAtaxiaSeizuresFlaccid tetraplegiaHyperreflexia (less common)Absence of myelin in the posterior column of the spinal cord (1 patient); AreflexiaPeripheral neuropathy, progressiveDelayed motor nerve conduction velocities; Immune deficiencyIncreased susceptibility to infections; Reduced serum uric acidUndetectable urinary hypoxanthineDecreased PRPP synthetase activity in erythrocytes and fibroblasts]; #304500:Deafness, X-linked 1[Congenital hearing loss; Perceptive hearing loss]; #311070:Charcot-Marie-Tooth disease, X-linked recessive, 5[Hearing loss, sensorineural, prelingual; Vision impairment, progressive (onset in late childhood or teens in some patients)Optic nerve atrophy (in some patients); Pes cavus; Delayed motor developmentDistal limb muscle weakness due to peripheral neuropathyDistal limb muscle atrophy due to peripheral neuropathyImpaired gait, some patients are never able to runAreflexia of the lower limbsDistal sensory impairmentNerve conduction velocities (NCV) may be normal or mildly decreased Sural nerve biopsy shows loss of both large and small myelinated fibersIncreased endoneurial collagenSegmental demyelination/remyelinationOnion bulb formations]

Publications

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 4:16 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, X-Linked
  • Gout, PRPS-related, 300661
  • hearing loss
  • #300661:Phosphoribosylpyrophosphate synthetase superactivity
  • #301835:Arts syndrome
  • #304500:Deafness, X-linked 1
  • #311070:Charcot-Marie-Tooth disease, X-linked recessive, 5
OMIM
311850
Clinvar variants
Variants in PRPS1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Jan 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PRPS1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PRPS1 were set to Nonsyndromic Hearing Loss, X-Linked; Gout, PRPS-related, 300661; hearing loss; #300661:Phosphoribosylpyrophosphate synthetase superactivity; #301835:Arts syndrome; #304500:Deafness, X-linked 1; #311070:Charcot-Marie-Tooth disease, X-linked recessive, 5

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PRPS1 were set to PMID:10503584; 15240907; 168665; 171280; 17701896; 17701900; 1962753; 20021999; 20380929; 2155397; 217337; 218284; 22246954; 2423135; 24285972; 2537655; 4373874; 6243137; 7593598; 8253776; 8498830; 8968763

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for PRPS1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PRPS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PRPS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PRPS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PRPS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PRPS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert