Genes in panel

Hereditary neuropathy

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.

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

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • hereditary sensory & autonomic neuropathy type VIII
OMIM
616458
Clinvar variants
Variants in PRDM12
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PRDM12.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PRDM12. Rating Changed from Green List (high evidence) to Green List (high evidence)

6 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII

6 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

PRDM12 was created by MReilly-925

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

PRDM12 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review