Adult onset hereditary spastic paraplegia

Gene: SLC33A1

Red List (low evidence)

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

• 19061983
• 25402622

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

Red List (low evidence)

Limited genotype-phenotype correlation

Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spastic paraplegia 42, autosomal dominant

Publications

• Lin et al. (2008)

I don't know

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.

Green List (high evidence)

several unrelated families published with CCHLND, affected members of a large Chinese family with pure autosomal dominant spastic paraplegia-42 . In sheffield HSP panel

Created: 25 Apr 2019, 1:22 p.m.

Phenotypes
Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD