1. Genes and Genomic Entities
  2. PRDM12

PRDM12

PR/SET domain 12
OMIM: 616458, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green PRDM12 in Familial dysautonomia


Version 1.18

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 1.12

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


Level 2: Neurology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII
Green PRDM12 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488
    • congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
    Green PRDM12 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488
    • congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
    Red PRDM12 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488
    • congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
    Green PRDM12 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488
    • congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662