Childhood onset hereditary spastic paraplegia
Gene: AMPD2
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
Variants in this GENE are reported as part of current diagnostic practice
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 2016Created: 2 May 2019, 3:30 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: 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
Phenotypes for gene: AMPD2 were changed from Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) to ?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR
Publications for gene: AMPD2 were set to Novarino et al. (2014)
Source Yorkshire and North East GLH was added to AMPD2.
Gene: ampd2 has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to AMPD2.
Source London North GLH was added to AMPD2.
Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2
Rebecca Foulger: Comment on list classification
gene: AMPD2 was added gene: AMPD2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to Novarino et al. (2014) Phenotypes for gene: AMPD2 were set to Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia?