Pain syndromes
Gene: PRDM12

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

4 reviews

Rebecca Foulger (Genomics England curator)

Green 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

Created: 8 Oct 2019, 10:47 a.m.
Last Modified: 8 Oct 2019, 10:47 a.m.
Panel version: 1.8

Tomislav Kokotovic (Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HSAN VIII, insensitivity to pain

Publications

25891934

Created: 3 Oct 2019, 9:48 a.m.
Last Modified: 3 Oct 2019, 9:48 a.m.
Panel version: 1.6

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: reformatted phenotype listing
Created: 19 Sep 2017, 11:35 a.m.

Two independent papers on PRDM12 with multiple independent pedigrees
Created: 9 Jul 2017, 4:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory and autonomic, type VIII; 616488

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary sensory and autonomic neuropathy type VIII (HSAN 8)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

HSAN VIII
insensitivity to pain
Hereditary sensory and autonomic neuropathy type VIII
HSAN 8
Neuropathy, hereditary sensory and autonomic, type VIII, 616488

OMIM

616458

Clinvar variants

Variants in PRDM12

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

8 Oct 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

8 Oct 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: PRDM12 were set to 26005867; 26975306

19 Sep 2017, Gel status: 4