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  1. Genes and Genomic Entities
  2. RPIA

RPIA

ribose 5-phosphate isomerase A
OMIM: 180430, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green RPIA in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ribose 5-phosphate isomerase deficiency, MIM# 608611

Amber RPIA in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ribose 5-phosphate isomerase deficiency, MIM 608611

    Amber RPIA in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • RPIA (ribose 5-phosphate isomerase A)

    Green RPIA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Ribose 5-phosphate isomerase deficiency, MIM 608611

    Green RPIA in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ribose 5-phosphate isomerase deficiency, MIM# 608611

    Green RPIA in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.151

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Royal Melbourne Hospital
    Phenotypes
    • Ribose 5-phosphate isomerase deficiency, MIM#608611

    Green RPIA in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ribose 5-phosphate isomerase deficiency, MIM# 608611
    • Leukoencephalopathy