PRDM12

PR/SET domain 12
OMIM: 616458, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PRDM12 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488
  • MONDO:0014662

Green PRDM12 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488
    • MONDO:0014662
    • HSAN/SFN

    Green PRDM12 in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.34

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • insensitivity to pain
    • Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488
    • MONDO:0014662

    Green PRDM12 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive

    Green PRDM12 in Autonomic neuropathy


    Level 2: Autonomic Neuropathy
    Version 0.50

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488
    • MONDO:0014662

    Green PRDM12 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive

    Green HSAN8 STR in Repeat Disorders


    Version 0.167

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488
    Tags
    • paediatric-onset