Hereditary neuropathy or pain disorder
Gene: RETREG1
Bristol - no pathogenic or likely pathogenic variants out of approx.1900 patients tested. PMID:30373780 - most recent paper with a homozygous frameshift variant in patient with specific and consistent features. PMID: 19838196 - four unrelated HSAN II families carrying homozygous loss-offunction FAM134B mutations.Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Sensory and Autonomic Neuropathy, Type II ; Neuropathy, hereditary sensory and autonomic, type IIB, 613115 ; Neuropathy, hereditary sensory and autonomic, type IIB, 613115
Publications
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
New approved gene symbol is RETREG1Created: 24 Mar 2017, 10:39 a.m.
Comment on list classification: Discussed internally and as three reviewers rated the gene green and are currently reporting variants in this gene, it should be green.Created: 10 May 2016, 10:54 a.m.
Comment on list classification: Demoted from green to amber due to the comment by Thalia Antoniadi (West Midlands Regional Genetics Laboratory).Created: 3 May 2016, 4:10 p.m.
The gene was added in the UKGTN approved panel because it had an OMIM entry associated with CMT. Following testing of 480 patients, no patient was found with pathogenic variants, and the gene is quite polymorphic, so variant classification was a particular problem. This gene should be amber.Created: 7 Oct 2015, 10:48 a.m.
Publications
gene: RETREG1 was added gene: RETREG1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 30373780; 19838196 Phenotypes for gene: RETREG1 were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IIB, 613115