PRODH

proline dehydrogenase 1
OMIM: 606810, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green PRODH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

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


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

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 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    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 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH