Hereditary spastic paraplegia
Gene: RTN2A recent publication has been described seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven consanguineous families with distal hereditary motor neuropathy (dHMN) with pyramidal features.Created: 28 Mar 2024, 3:21 p.m. | Last Modified: 28 Mar 2024, 3:49 p.m.
Panel Version: 1.308
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weakness in the distal upper and lower limbs; Lower limb spasticity; Hyperreflexia
Publications
This gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 14 Jun 2016, 9:37 a.m.
> 3 unrelated cases plus functional data.
Segregation not completed in sporadic cases.Created: 7 Feb 2016, 10:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary spastic paraplegia
Publications
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene RTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RTN2 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen
Model of inheritance for gene RTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RTN2 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen
RTN2 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen