Hereditary neuropathy or pain disorder

Gene: RETREG1

Green List (high evidence)

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

• 30373780
• 19838196

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

Green List (high evidence)

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

Green List (high evidence)

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

I don't know

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 RETREG1

Created: 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.

Red List (low evidence)

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

• PMID: 26392352