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Prepair 1000+

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

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

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

Gene also known as FAM134B
HGNC approved symbol/name: RETREG1
Is the phenotype(s) severe and onset <18yo? Y
Created: 21 Jan 2025, 3:10 a.m. | Last Modified: 21 Jan 2025, 3:10 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

23 Jan 2025, 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).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RETREG1 were changed from Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3) to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RETREG1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RETREG1 was added gene: RETREG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)