Genomics England
GMS Panels
Panels
Genes and Entities

RPIA

ribose 5-phosphate isomerase A
OMIM: 180430
PanelMode of inheritanceDetails
2 panels
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism), Ribose 5-phosphate isomerase deficiency, OMIM:608611
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ribose 5-phosphate isomerase deficiency, OMIM:608611