Genomics England
GMS Panels
Panels
Genes and Entities

PRPS1

phosphoribosyl pyrophosphate synthetase 1
OMIM: 311850
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ARTS SYNDROME 301835, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY 300661, DEAFNESS X-LINKED TYPE 1 304500, CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.16
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Charcot Marie Tooth disease, X linked recessive, 5, 311070
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070, Arts syndrome, 301835, Deafness, X-linked 1, 304500, CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 (CMTX5), Gout, PRPS-related, 300661, Phosphoribosylpyrophosphate synthetase superactivity, 300661
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.14
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Arts syndrome 301835, Charcot-Marie-Tooth disease, X-linked recessive, 5 311070, Deafness, X-linked 1 304500, Gout, PRPS-related 300661, Phosphoribosylpyrophosphate synthetase superactivity 300661
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.51
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.16
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
retinal dystrophy