Hereditary neuropathy
Gene: PRDM12
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
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
Source NHS GMS was added to PRDM12.
Source London North GLH was added to PRDM12. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII
This gene has been classified as Green List (High Evidence).
PRDM12 was created by MReilly-925
PRDM12 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review