Hereditary spastic paraplegia - adult onsetGene: AP4S1
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.
Victoria: 2 reported families but convincing evidence. In Sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 52, autosomal recessive, 614067; developmental delay; seizures
Publications for gene: AP4S1 were set to
Source Yorkshire and North East GLH was added to AP4S1.
Source Expert Review Green was added to AP4S1. Mode of inheritance for gene AP4S1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to AP4S1.
gene: AP4S1 was added gene: AP4S1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AP4S1 was set to