Adult onset hereditary spastic paraplegia

Gene: SLC1A4

The 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

Comment on list classification: Leaving the rating as green, but with a recommendation for review of this gene at the next GMS review as all cases have onset in childhood and this is an adult onset panel.

Created: 28 May 2021, 8:15 a.m. | Last Modified: 28 May 2021, 8:15 a.m.

Panel Version: 1.23

All cases to date have a childhood presentation - see review of cases on the Severe microcephaly panel https://panelapp.genomicsengland.co.uk/panels/162/gene/SLC1A4/

Created: 26 May 2021, 4:13 p.m. | Last Modified: 26 May 2021, 4:13 p.m.

Panel Version: 1.21

Red List (low evidence)

Childhood onset.

Created: 22 Sep 2020, 5:18 a.m. | Last Modified: 22 Sep 2020, 5:18 a.m.

Panel Version: 1.7

I don't know

Childhood onset. No reported cases of adult onset.

Created: 10 May 2019, 9:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 29989513
• 27193218
• 26138499
• 26041762
• 25930971

I don't know

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.

Green List (high evidence)

Victoria: delayed psychomotor development with lack of speech and inability to walk, postnatal progressive microcephaly, and spasticity. Publications in unrelated families,

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657