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  2. Hereditary neuropathy or pain disorder
  3. PRDM12
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Hereditary neuropathy or pain disorder

Gene: PRDM12

Green List (high evidence)
PRDM12 (PR/SET domain 12)
EnsemblGeneIds (GRCh38): ENSG00000130711
EnsemblGeneIds (GRCh37): ENSG00000130711
OMIM: 616458, Gene2Phenotype
PRDM12 is in 8 panels

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Created: 29 Apr 2019, 9:26 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.80

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 29 Apr 2019, 9:20 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.52

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added by a reviewer and rated green by a second reviewer. Is a confirmed DD gene for hereditary sensory & autonomic neuropathy type VIII.
Created: 6 May 2016, 3:31 p.m.
Created: 6 May 2016, 3:31 p.m.

Panel version: Imported from Hereditary neuropathy panel version 0.156

Details

Mode of Inheritance
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
OMIM
616458
Clinvar variants
Variants in PRDM12
Penetrance
None
Panels with this gene

History Filter Activity

19 Oct 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PRDM12 were changed from hereditary sensory & autonomic neuropathy type VIII to Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488; congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PRDM12 was added gene: PRDM12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII