Adult onset hereditary spastic paraplegia
Gene: SLC33A1
Adult and childhood onset; single family reported. No additional patients identified using Sheffield panel.Created: 10 May 2019, 9:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Limited genotype-phenotype correlationCreated: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 42, autosomal dominant
Publications
Green gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Red 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.
several unrelated families published with CCHLND, affected members of a large Chinese family with pure autosomal dominant spastic paraplegia-42 . In sheffield HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Phenotypes
Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD
Source Expert Review Red was added to SLC33A1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Publications for gene: SLC33A1 were set to Lin et al. (2008)
Source Yorkshire and North East GLH was added to SLC33A1.
Mode of inheritance for gene: SLC33A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 42, autosomal dominant for gene: SLC33A1 Publications for gene SLC33A1 were changed from to Lin et al. (2008)
Source South West GLH was added to SLC33A1.
Source Expert Review Green was added to SLC33A1. Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD for gene: SLC33A1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to SLC33A1.
gene: SLC33A1 was added gene: SLC33A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC33A1 was set to