Hereditary spastic paraplegia
Gene: NT5C2Comment on list classification: Updated rating from Red to Green based on curation by Sarah Leigh and feedback from Helen Brittain who notes that there are sufficient cases with a phenotype that includes spasticity to meet the threshold for inclusion; therefore a green rating seems appropriate.Created: 12 Mar 2019, 11:18 a.m.
Several more reports since 2016 review:
Straussberg 2017 (28884889): homozygous missense mutation in NT5C2 (c.1379T>C; p.Leu460Pro), spastic paraplegia associated with mental retardation
Elsaid 2017 (28327087): homozygous NT5C2 splice site mutation in Thin Corpus Callosum (TCC) associated HSP
Darvish 2017 (29123918); Homozygous single exon deletion. Delayed developmental milestones and ID became prominent with age. Walking began in about age 3 but gradually became spastic and problematic. There was no history of epileptic attacks, skeletal or facial deformity, failure to thrive, and no self-mutilation or aggressionCreated: 26 Nov 2018, 5:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic paraplegia; mental retardation; Thin Corpus Callosum associated HSP
Publications
Comment when marking as ready: Multiple cases with homozygous high impact variantsCreated: 10 May 2016, 1:47 p.m.
Phenotypes for gene: NT5C2 were changed from Spasticparaplegia 45, autosomal recessive, 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Phenotypes for gene: NT5C2 were changed from Spasticparaplegia 45, autosomal recessive 613162 to Spasticparaplegia 45, autosomal recessive, 613162
Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spasticparaplegia 45, autosomal recessive 613162
Gene: nt5c2 has been classified as Green List (High Evidence).
Publications for gene: NT5C2 were set to 28884889; 28327087; 29123918
Publications for gene: NT5C2 were set to Novarino et al. (2014)
Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45,613162 to Spasticparaplegia45, autosomal recessive 613162
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene NT5C2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NT5C2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NT5C2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NT5C2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NT5C2 was changed to BIALLELIC, autosomal or pseudoautosomal
NT5C2 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
NT5C2 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen