Hereditary Neuropathy_CMT - isolated
Gene: RETREG1EnsemblGeneIds (GRCh38): ENSG00000154153
EnsemblGeneIds (GRCh37): ENSG00000154153
OMIM: 613114, Gene2Phenotype
RETREG1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 10:51 a.m. | Last Modified: 21 May 2021, 10:51 a.m.
Panel Version: 0.176
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
- Royal Melbourne Hospital
- Phenotypes
-
- Neuropathy, hereditary sensory and autonomic, type IIB, 613115
- HSAN/SFN
- OMIM
- 613114
- Clinvar variants
- Variants in RETREG1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: retreg1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RETREG1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RETREG1 was added gene: RETREG1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,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; HSAN/SFN