Childhood onset hereditary spastic paraplegia

Gene: AMPD2

I don't know

Childhood onset in three cases from two families described in two whole exome studies. No additional families identified using Sheffield panel.

Created: 3 May 2019, 3:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 24482476
• 27159321

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

I don't know

Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber 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.

Red rating on Hereditary spastic paraplegia panel 1.198

nonsense variant in single family in exome study. Low evidence
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018

Comment when marking as ready: Single family only - more evidence required
emma baple (Genomics England Curator), 8 Feb 2016

Created: 2 May 2019, 3:30 p.m.

Green List (high evidence)

Liturature-single consanguineous family, affected memebrs with SPG67, 8 patients from 5 families with pontocerebellar hypoplasia type 9. Vicotria: Green. In sheffield HSP panel

Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR