PanelApp
  1. Genes and Genomic Entities
  2. PRDM12

PRDM12

PR/SET domain 12
OMIM: 616458, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PRDM12 in Mendeliome


Version 1.3512

1 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 1.68

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 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 0.36

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 0.110

    		0 reviews 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 0.51

    		2 reviews 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 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488

    Green PRDM12_HSAN8_GCC STR in Repeat Disorders


    Version 0.269

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