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Mendeliome

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, 10:53 a.m. | Last Modified: 21 May 2021, 10:53 a.m.
Panel Version: 0.7661

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
  • Victorian Clinical Genetics Services
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 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

21 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RETREG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RETREG1 was added gene: RETREG1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RETREG1 was set to Unknown