Adult onset hereditary spastic paraplegia
Gene: ATP13A2
Already Green on HSP panelCreated: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia
Publications
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green 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.
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.
4 unrelated cases published to support diagnostic ratingCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia; Kufor-Rakeb syndrome, 606693 AR
Publications for gene: ATP13A2 were set to 28137957; 27217339
Source Yorkshire and North East GLH was added to ATP13A2.
Added phenotypes Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2 Publications for gene ATP13A2 were changed from to 28137957; 27217339
Source South West GLH was added to ATP13A2.
Source Expert Review Green was added to ATP13A2. Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Kufor-Rakeb syndrome, 606693 AR; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to ATP13A2.
gene: ATP13A2 was added gene: ATP13A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ATP13A2 was set to