PRODH

proline dehydrogenase 1
OMIM: 606810, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PRODH in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PRODH in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperprolinaemia, type I 239500
  • Proline oxidase deficiency

Green PRODH in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperprolinemia, type I, MIM# 239500
    • Proline oxidase deficiency

    Green PRODH in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Red PRODH in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Hyperprolinemia, type I

    Green PRODH in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperprolinemia, type I 239500
    • Proline oxidase deficiency

    Green PRODH in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • hyperprolinemia type 1 MONDO:0009400

    Red PRODH in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Hyperprolinemia, type I