Childhood onset hereditary spastic paraplegia
Gene: SLC33A1
Adult and childhood onset; single family. 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
Amber gene with Green and 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, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
Amber rating on Hereditary spastic paraplegia panel 1.198
helen kingston (CMFT NHS Foundation Trust, Manchester)
5 Nov 2017 Submitted Green review.
Comment when marking as ready: Very clear association of autosomal recessive mutations with congenital cataracts, hearing loss, and neurodegeneration. Limited evidence currently for HSP
emma baple (Genomics England Curator), 10 May 2016
A mutation in this gene has been described in one chinese family affected by pure HSP, showing autosomal dominant inheritance with reduced penetrance. A subsequent screen of 220 pure HSP patients of mostly caucasian origin failed to identify mutations with this gene.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square), 13 Jan 2016. Submitted Amber ratingCreated: 2 May 2019, 4:50 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: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 Amber List (moderate 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.
Gene: slc33a1 has been classified as Amber List (Moderate Evidence).
Gene: slc33a1 has been classified as Red List (Low Evidence).
Phenotypes for gene: SLC33A1 were changed from Spastic paraplegia 42, autosomal dominant, to Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR; Spastic paraplegia 42, autosomal dominant
Mode of inheritance for gene: SLC33A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: slc33a1 has been classified as Green List (High Evidence).
Source NHS GMS was added to SLC33A1.
Source London North GLH was added to SLC33A1.
Added phenotypes Spastic paraplegia 42, autosomal dominant, for gene: SLC33A1
Rebecca Foulger: Comment on list classification
gene: SLC33A1 was added gene: SLC33A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC33A1 were set to Lin et al. (2008) Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant,