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Hereditary spastic paraplegia
Gene: NT5C2

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.

Created: 12 Mar 2019, 11:18 a.m.

Panel version: 1.193

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

Created: 26 Nov 2018, 5:07 p.m.

Panel version: 1.71

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.

Created: 10 May 2016, 1:47 p.m.

Panel version: 0.36

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