HPRT1

hypoxanthine phosphoribosyltransferase 1
OMIM: 308000
PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 2.3
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 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
LESCH-NYHAN SYNDROME 300322, GOUT HPRT-RELATED 300323
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hyperuricemia, HRPT-related, OMIM:300323, Lesch-Nyhan syndrome, OMIM:300322
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lesch-Nyhan syndrome, OMIM:300322
R-numbers: R256
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hyperuricemia, HRPT-related, OMIM:300323, Lesch-Nyhan syndrome, OMIM:300322