Genomics England
GMS Panels
Panels
Genes and Entities

HPRT1

hypoxanthine phosphoribosyltransferase 1
OMIM: 308000
PanelMode of inheritanceDetails
5 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lesch-Nyhan syndrome, OMIM:300322, Dystonia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
LESCH-NYHAN SYNDROME 300322, GOUT HPRT-RELATED 300323
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lesch-Nyhan syndrome, OMIM:300322
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 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hyperuricemia, HRPT-related, OMIM:300323, Lesch-Nyhan syndrome, OMIM:300322
Green
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.16
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hyperuricemia, HRPT-related, OMIM:300323, Lesch-Nyhan syndrome, OMIM:300322