Hereditary spastic paraplegia

Gene: NT5C2

Green List (high evidence)

NT5C2 (5'-nucleotidase, cytosolic II)
EnsemblGeneIds (GRCh38): ENSG00000076685
EnsemblGeneIds (GRCh37): ENSG00000076685
OMIM: 600417, Gene2Phenotype
NT5C2 is in 6 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment 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.

Chris Buxton (North Bristol NHS Trust)

I don't know

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 aggression
Created: 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

emma baple (Genomics England Curator)

Comment when marking as ready: Multiple cases with homozygous high impact variants
Created: 10 May 2016, 1:47 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Spastic paraplegia 45, autosomal recessive, 613162
OMIM
600417
Clinvar variants
Variants in NT5C2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: NT5C2 were changed from Spasticparaplegia 45, autosomal recessive, 613162 to Spastic paraplegia 45, autosomal recessive, 613162

12 Mar 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: NT5C2 were changed from Spasticparaplegia 45, autosomal recessive 613162 to Spasticparaplegia 45, autosomal recessive, 613162

12 Mar 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spasticparaplegia 45, autosomal recessive 613162

12 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: nt5c2 has been classified as Green List (High Evidence).

12 Dec 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NT5C2 were set to 28884889; 28327087; 29123918

12 Dec 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NT5C2 were set to Novarino et al. (2014)

12 Dec 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45,613162 to Spasticparaplegia45, autosomal recessive 613162

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NT5C2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NT5C2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NT5C2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NT5C2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NT5C2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NT5C2 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NT5C2 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen