Adult onset hereditary spastic paraplegia

Gene: NT5C2

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.

Panel Version: 1.95

Review of literature did not reveal any adult onset cases - infantile and childhood onset only

The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.

Created: 20 Aug 2021, 10:15 a.m. | Last Modified: 20 Aug 2021, 10:15 a.m.

Panel Version: 1.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 45, autosomal recessive, OMIM:613162

Publications

• 19415352
• 24482476
• 28327087
• 28884889
• 29123918
• 32153630

Red List (low evidence)

Childhood onset.

Created: 22 Sep 2020, 5:15 a.m. | Last Modified: 22 Sep 2020, 5:15 a.m.

Panel Version: 1.7

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

• 24482476
• 28327087
• 28884889
• 29123918

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

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

• 24482476
• 28884889
• 28327087
• 29123918

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.

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