Adult onset hereditary spastic paraplegia

Gene: ARL6IP1

Green List (high evidence)

Appears to be childhood onset only. Two kindred reported but Novarino et al 2014 kindred with 4 affected individuals from 2 branches of family. No additional patients identified using Sheffield panel.

Created: 10 May 2019, 11:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
24482476; 28471035

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

I don't know

Follow up review and rating after GMS Neurology Specialist Test Group Webex on 17th May 2019. Review submitted by James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group, gene rated as AMBER

Created: 30 May 2019, 4:26 p.m.

Comment on list classification: Gene discussed in view of onset. Gene downgraded from Green to Amber, rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.

Created: 30 May 2019, 4:20 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)

Will include in local HSP panel 3 families (Novarino et al 2014; Trujillano et al 2017; Nizon et al 2018)

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 28471035
• 24482476