PRODH

proline dehydrogenase 1
OMIM: 606810, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red PRODH in Autism


Version 0.15

review Not set
Sources
  • Expert Review Red
  • SFARI

Green PRODH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.411

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperprolinaemia type I (Disorders of ornithine or proline metabolism)
  • Hyperprolinemia, type I 239500

Green PRODH in Inborn errors of metabolism


Version 1.392

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperprolinemia, type I 239500
  • Hyperprolinaemia type I (Disorders of ornithine or proline metabolism)

Green PRODH in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.405

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hyperprolinemia, type I 239500

Green PRODH in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperprolinemia, type I, 239500
  • {Schizophrenia, susceptibility to, 4}, 600850