RPIA

ribose 5-phosphate isomerase A
OMIM: 180430
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism), ?Ribose 5-phosphate isomerase deficiency 608611
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Ribose 5-phosphate isomerase deficiency, 608611, Ribose 5-phosphate isomerase deficiency, MIM 608611.