Hereditary spastic paraplegia - adult onsetGene: NT5C2
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
Spasticparaplegia45, autosomal recessive, 613162
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 panel
Created: 25 Apr 2019, 1:22 p.m.
Spastic paraplegia 45, autosomal recessive, 613162, AR
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