Hereditary spastic paraplegia - childhood onsetGene: AP5Z1
Amber gene with Green 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, 4:50 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.
Rated Red on Hereditary spastic paraplegia panel 1.198.
Amber rating : Hirst et al 2016 (4 families) since PanelApp review (2016)
Chris Buxton (North Bristol NHS Trust), 26 Nov 2018
Red rating: Only one family described to date, further evidence required.
emma baple (Genomics England Curator), 7 Feb 2016
Created: 2 May 2019, 3:41 p.m.
Several unrelated cases with adult onset SPG48
Created: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 48, autosomal recessive 613647, AR
Source Expert Review Green was added to AP5Z1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i
Source Yorkshire and North East GLH was added to AP5Z1.
Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
Gene: ap5z1 has been classified as Green List (High Evidence).
Source NHS GMS was added to AP5Z1.
Source London North GLH was added to AP5Z1.
Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1
Rebecca Foulger: Comment on list classification
gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i Phenotypes for gene: AP5Z1 were set to Spastic paraplegia 48, autosomal recessive; Spastic Paraplegia, Recessive