Hereditary spastic paraplegia - adult onset

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

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Childhood onset. Not reported in Adult cases.
Created: 9 May 2019, 6:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Chris Buxton (North Bristol NHS Trust)

Green List (high evidence)

Will include in local HSP panel. New studies since PanelApp review: Straussberg 2017 (28884889): homozygous missense mutation in NT5C2: spastic paraplegia associated with MR. Elsaid 2017 (28327087): homozygous NT5C2 splice site mutation in Thin Corpus Callosum (TCC) associated HSP. Darvish 2017 (29123918); Homozygous single exon deletion. Delayed dev ID prominent with age.
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spasticparaplegia45, autosomal recessive, 613162

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

3 unrelated consanguineous families - segregating spastic paraplegia-45 In sheffield HSP panel
Created: 25 Apr 2019, 1:22 p.m.

Phenotypes
Spastic paraplegia 45, autosomal recessive, 613162, AR

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • South West GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Spasticparaplegia45, autosomal recessive, 613162
  • Spastic paraplegia 45, autosomal recessive, 613162, AR
OMIM
600417
Clinvar variants
Variants in NT5C2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to NT5C2.

27 Apr 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: NT5C2 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Spasticparaplegia45, autosomal recessive, 613162 for gene: NT5C2 Publications for gene NT5C2 were changed from to 28327087; 28884889; 24482476; 29123918

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to NT5C2.

25 Apr 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to NT5C2. Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162, AR for gene: NT5C2 Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NT5C2.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NT5C2 was added gene: NT5C2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: NT5C2 was set to