Genomics England
GMS Panels
Panels
Genes and Entities

RPIA

ribose 5-phosphate isomerase A
OMIM: 180430
PanelMode of inheritanceDetails
3 panels
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ribose 5-phosphate isomerase deficiency, OMIM:608611
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism), Ribose 5-phosphate isomerase deficiency, OMIM:608611
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ribose 5-phosphate isomerase deficiency, OMIM:608611