PanelApp (staging)
  1. Genes and Genomic Entities
  2. PYCR2

PYCR2

pyrroline-5-carboxylate reductase 2
OMIM: 616406, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PYCR2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 10, MIM# 616420

Green PYCR2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Leukodystrophy, hypomyelinating, 10, MIM# 616420

Green PYCR2 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.318

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Leukodystrophy, hypomyelinating, 10, MIM# 616420

    Green PYCR2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukodystrophy, hypomyelinating, 10, 616420 (3)

    Red PYCR2 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Leukodystrophy, hypomyelinating, 10, MIM# 616420

    Green PYCR2 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukodystrophy, hypomyelinating, 10, MIM#616420

    Green PYCR2 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.133

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Hypomyelinating leukodystrophy 10 MONDO:0014632
    • Disorders of ornithine, proline and hydroxyproline metabolism