Adult onset hereditary spastic paraplegia

Gene: AMPD2

I don't know

Childhood onset in three cases from two families described in two whole exome studies. However, clinical features in second case do not include spasticity. No additional families identified using Sheffield panel.

Created: 3 May 2019, 4:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 24482476
• 27159321

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

Red List (low evidence)

1 family (Novarino et al 2014); HGMD report doesn't appear to be HSP pheno (Vanderver et al 2016)

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia?

Publications

• Novarino et al. (2014)

I don't know

Green gene with Red and Amber 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, 4:14 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)

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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