Pain syndromes

Gene: RETREG1

Green List (high evidence)

RETREG1 (reticulophagy regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000154153
EnsemblGeneIds (GRCh37): ENSG00000154153
OMIM: 613114, Gene2Phenotype
RETREG1 is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: reformatted phenotype listing
Created: 19 Sep 2017, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory and autonomic, type IIB; 613115

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary sensory and autonomic neuropathy (HSAN 2B)

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hereditary sensory and autonomic neuropathy
  • HSAN 2B
  • Neuropathy, hereditary sensory and autonomic, type IIB, 613115
OMIM
613114
Clinvar variants
Variants in RETREG1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 3

Changed Gene Name

GEL ()

FAM134B was changed to RETREG1

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FAM134B were set to Hereditary sensory and autonomic neuropathy;HSAN 2B; Neuropathy, hereditary sensory and autonomic, type IIB, 613115

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FAM134B were set to Hereditary sensory and autonomic neuropathy; HSAN 2B; Neuropathy, hereditary sensory and autonomic, type IIB, 613115

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FAM134B were set to Hereditary sensory and autonomic neuropathy (HSAN 2B); Neuropathy, hereditary sensory and autonomic, type IIB, 613115

9 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FAM134B were set to Hereditary sensory and autonomic neuropathy (HSAN 2B);Neuropathy, hereditary sensory and autonomic, type IIB; 613115

9 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

FAM134B was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene

9 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

FAM134B was created by BRIDGE