1. Genes and Genomic Entities
  2. PRODH

PRODH

proline dehydrogenase 1
OMIM: 606810, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red PRODH in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green PRODH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperprolinemia, type I, OMIM:239500
  • hyperprolinemia type 1, MONDO:0009400
Green PRODH in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Hyperprolinemia, type I, OMIM:239500
    • hyperprolinemia type 1, MONDO:0009400
    Amber PRODH in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    Phenotypes
    • Hyperprolinemia, type I, OMIM:239500
    • hyperprolinemia type 1, MONDO:0009400
    Amber PRODH in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hyperprolinemia, type I, OMIM:239500
    • {Schizophrenia, susceptibility to, OMIM:4}, 600850
    Red PRODH in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green PRODH in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Next Generation Children Project
    • Expert list
    Phenotypes
    • Hyperprolinemia, type I, OMIM
    • 239500
    • hyperprolinemia type 1, MONDO:0009400