Hereditary Spastic Paraplegia - paediatric
Gene: SELENOI
Two unrelated families reported.Created: 18 Apr 2020, 8:16 a.m. | Last Modified: 18 Apr 2020, 8:16 a.m.
Panel Version: 0.46
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals
Publications
Gene: selenoi has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SELENOI were changed from severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures to Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals
Gene: selenoi has been classified as Amber List (Moderate Evidence).
gene: SELENOI was added gene: SELENOI was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SELENOI were set to 28052917; 29500230 Phenotypes for gene: SELENOI were set to severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures