Additional findings_Paediatric
Gene: RETREG1

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, 10:56 a.m. | Last Modified: 21 May 2021, 10:56 a.m.

Panel Version: 0.217

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 May 2021, 10:56 a.m.
Last Modified: 21 May 2021, 10:56 a.m.
Panel version: 0.217

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category C gene

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