Adult onset hereditary spastic paraplegia
Gene: AMPD2
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
Variants in this GENE are reported as part of current diagnostic practice
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
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.
Liturature-single consanguineous family, affected memebrs with SPG67, 8 patients from 5 families with pontocerebellar hypoplasia type 9. Vicotria: Green. In sheffield HSP panelCreated: 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
Source Expert Review Amber was added to AMPD2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Publications for gene: AMPD2 were set to Novarino et al. (2014)
Source Yorkshire and North East GLH was added to AMPD2.
Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2 Publications for gene AMPD2 were changed from to Novarino et al. (2014)
Source South West GLH was added to AMPD2.
Source Expert Review Green was added to AMPD2. Mode of inheritance for gene AMPD2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR for gene: AMPD2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to AMPD2.
gene: AMPD2 was added gene: AMPD2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AMPD2 was set to