Pain syndromes
Gene: PRDM12Green review by Tomislav Kokotovic agrees with the current Green rating of PRDM12 on this panel.Created: 8 Oct 2019, 10:47 a.m. | Last Modified: 8 Oct 2019, 10:47 a.m.
Panel Version: 1.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HSAN VIII, insensitivity to pain
Publications
Comment on phenotypes: reformatted phenotype listingCreated: 19 Sep 2017, 11:35 a.m.
Two independent papers on PRDM12 with multiple independent pedigreesCreated: 9 Jul 2017, 4:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic, type VIII; 616488
Phenotypes for gene: PRDM12 were changed from Hereditary sensory and autonomic neuropathy type VIII; HSAN 8; Neuropathy, hereditary sensory and autonomic, type VIII, 616488 to HSAN VIII; insensitivity to pain; Hereditary sensory and autonomic neuropathy type VIII; HSAN 8; Neuropathy, hereditary sensory and autonomic, type VIII, 616488
Publications for gene: PRDM12 were set to 26005867; 26975306
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for PRDM12 were set to Hereditary sensory and autonomic neuropathy type VIII; HSAN 8; Neuropathy, hereditary sensory and autonomic, type VIII, 616488
Phenotypes for PRDM12 were set to Hereditary sensory and autonomic neuropathy type VIII (HSAN 8); Neuropathy, hereditary sensory and autonomic, type VIII, 616488
Phenotypes for PRDM12 were set to Hereditary sensory and autonomic neuropathy type VIII (HSAN 8);Neuropathy, hereditary sensory and autonomic, type VIII; 616488
This gene has been classified as Green List (High Evidence).
PRDM12 was created by BRIDGE
PRDM12 was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene