Hereditary Neuropathy_CMT - isolated
Gene: RTN2EnsemblGeneIds (GRCh38): ENSG00000125744
EnsemblGeneIds (GRCh37): ENSG00000125744
OMIM: 603183, Gene2Phenotype
RTN2 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID:38527963 reported the identification of seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven unrelated families with distal hereditary motor neuropathy.
All affected individuals exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography.
Characterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain, and treatment with an endoplasmic/sarcoplasmic reticulum Ca(2+) re-uptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences.
Sources: LiteratureCreated: 19 Apr 2024, 4:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
- OMIM
- 603183
- Clinvar variants
- Variants in RTN2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RTN2 were changed from distal hereditary motor neuropathy, MONDO:0018894, RTN2-related to Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rtn2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rtn2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RTN2 was added gene: RTN2 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: RTN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTN2 were set to 38527963 Phenotypes for gene: RTN2 were set to distal hereditary motor neuropathy, MONDO:0018894, RTN2-related Review for gene: RTN2 was set to GREEN