Hereditary Spastic Paraplegia - paediatric
Gene: MAG
Spastic paraplegia-75 is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood. Eight unrelated families reported with variable combinations of psychomotor delay, ataxia, eye movement abnormalities, spasticity, dystonia, and neuropathic symptoms.Created: 19 Sep 2020, 7:46 a.m. | Last Modified: 11 Oct 2020, 10:02 a.m.
Panel Version: 0.155
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 75, autosomal recessive, MIM# 616680; Cerebellar ataxia
Publications
Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, 616680 to Spastic paraplegia 75, autosomal recessive, 616680; Cerebellar ataxia
Gene: mag has been classified as Green List (High Evidence).
Publications for gene: MAG were set to 31402626; 24482476; 26179919
gene: MAG was added gene: MAG was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAG were set to 31402626; 24482476; 26179919 Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680