PRDM12

PR/SET domain 12
OMIM: 616458, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green PRDM12 in Familial dysautonomia


Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII 616488

Green PRDM12 in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • HSAN VIII
  • insensitivity to pain
  • Hereditary sensory and autonomic neuropathy type VIII
  • HSAN 8
  • Neuropathy, hereditary sensory and autonomic, type VIII, 616488

Red PRDM12 in Paroxysmal central nervous system disorders


Version 1.10
Signed off v.1.2 on 27 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII, 616488
  • Hereditary sensory and autonomic neuropathy type VIII
  • HSAN 8

Red PRDM12 in Fetal anomalies


Version 1.179
Signed off v.1.92 on 21 Aug 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII

Green PRDM12 in DDG2P


Version 2.18
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488

    Green PRDM12 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert Review
    Phenotypes
    • hereditary sensory & autonomic neuropathy type VIII

    Red PRDM12 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • NA

    Green PRDM12 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • hereditary sensory & autonomic neuropathy type VIII

    Green PRDM12 in Severe Paediatric Disorders


    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VIII, 616488