Hereditary neuropathy
Gene: PRDM12EnsemblGeneIds (GRCh38): ENSG00000130711
EnsemblGeneIds (GRCh37): ENSG00000130711
OMIM: 616458, Gene2Phenotype
PRDM12 is in 8 panels
5 reviews
Louise Daugherty (Genomics England Curator)
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)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mary Reilly (Institute of Neurology)
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
-
- 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
- Complete
- Panels with this gene
History Filter Activity
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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PRDM12.
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)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Mary Reilly (Institute of Neurology)PRDM12 was created by MReilly-925
Added New Source
Mary Reilly (Institute of Neurology)PRDM12 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review