HPRT1

hypoxanthine phosphoribosyltransferase 1
OMIM: 308000
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
HPRT-related gout
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lesch-Nyhan syndrome, 300322HPRT-related gout, 300323, GOUT HPRT-RELATED (GOUT-HPRT)
R-numbers: R256
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lesch-Nyhan syndrome, 300322