PRDM12

PR/SET domain 12
OMIM: 616458, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green PRDM12 in Mendeliome


Version 2.0

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


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
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 1.0

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 1.0

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 1.0

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 3.0

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 Mendeliome


Version 2.0

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

Green PRDM12_HSAN8_GCC STR in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green PRDM12_HSAN8_GCC STR in Pain syndromes


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green PRDM12_HSAN8_GCC STR in Repeat Disorders


Version 1.0

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