Adult onset hereditary spastic paraplegia
Gene: AP5Z1
Will include in local HSP panel 3 reports. Hirst et al 2016 (4 families) since PanelApp review (2016)Created: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic Paraplegia, Recessive ; Spastic paraplegia 48, autosomal recessive
Publications
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.
Several unrelated cases with adult onset SPG48Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 48, autosomal recessive, 613647
Publications for gene: AP5Z1 were set to 27606357
Source Yorkshire and North East GLH was added to AP5Z1.
Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1 Publications for gene AP5Z1 were changed from to 27606357
Source South West GLH was added to AP5Z1.
Source Expert Review Green was added to AP5Z1. Mode of inheritance for gene AP5Z1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to AP5Z1.
gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AP5Z1 was set to