Adult onset hereditary spastic paraplegia
Gene: NT5C2The 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
Childhood onset.Created: 22 Sep 2020, 5:15 a.m. | Last Modified: 22 Sep 2020, 5:15 a.m.
Panel Version: 1.7
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
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
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.
3 unrelated consanguineous families - segregating spastic paraplegia-45 In sheffield HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Phenotypes
Spastic paraplegia 45, autosomal recessive, 613162, AR
Tag Q3_21_phenotype was removed from gene: NT5C2.
Source Expert Review Amber was added to NT5C2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q3_21_phenotype tag was added to gene: NT5C2.
Publications for gene: NT5C2 were set to 19415352; 24482476; 2832708; 28884889; 29123918; 32153630
Publications for gene: NT5C2 were set to 28327087; 28884889; 24482476; 29123918
Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR to Spastic paraplegia 45, autosomal recessive, 613162
Source Yorkshire and North East GLH was added to NT5C2.
Mode of inheritance for gene: NT5C2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spasticparaplegia45, autosomal recessive, 613162 for gene: NT5C2 Publications for gene NT5C2 were changed from to 28327087; 28884889; 24482476; 29123918
Source South West GLH was added to NT5C2.
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)
Source NHS GMS was added to NT5C2.
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