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Pain syndromes

Gene: RETREG1

Green List (high evidence)
RETREG1 (reticulophagy regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000154153
EnsemblGeneIds (GRCh37): ENSG00000154153
OMIM: 613114, Gene2Phenotype
RETREG1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hereditary sensory and autonomic neuropathy type IIB is an autosomal recessive neurologic disorder characterized by early childhood onset of distal sensory impairment usually resulting in ulceration and associated with variable autonomic features, such as hyperhidrosis and urinary incontinence. More than 5 unrelated families reported. Gene is also known as FAM134B.
Created: 21 May 2021, 10:55 a.m. | Last Modified: 21 May 2021, 10:55 a.m.
Panel Version: 0.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142

Publications

Created: 21 May 2021, 10:55 a.m.
Last Modified: 21 May 2021, 10:55 a.m.
Panel version: 0.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
  • MONDO:0013142
OMIM
613114
Clinvar variants
Variants in RETREG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: retreg1 has been classified as Green List (High Evidence).

21 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RETREG1 were changed from Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142

21 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RETREG1 were set to 19838196; 21115472; 24327336

1 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B for gene: RETREG1

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RETREG1 was added gene: RETREG1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 19838196; 21115472; 24327336 Phenotypes for gene: RETREG1 were set to Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B