Adult onset hereditary spastic paraplegia
Gene: LYST
Small number of families with HSP aspect of CHS, childhood and adult onsetCreated: 9 May 2019, 6:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
limited evidence. On Sheffield's Hsp panel, see current PA review statusCreated: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic paraplegia; Chediak-Higashi syndrome, 214500
Publications
Green gene with Amber 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, 4:14 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.
2 cases reported, family 1- 3 sibs affected with CHS & progressive spastic paraparesis & family2-2pts in consanguinous family. In sheffields HSP panel. Victoria: GreenCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia; Chediak-Higashi syndrome, 214500
Source Expert Review Amber was added to LYST. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to LYST.
Added phenotypes spastic paraplegia; Chediak-Higashi syndrome, 214500 for gene: LYST Publications for gene LYST were changed from to 24521565; 26307451; 25519961; 25519960
Source South West GLH was added to LYST.
Source Expert Review Green was added to LYST. Mode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Chediak-Higashi syndrome, 214500; Spastic paraplegia for gene: LYST Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to LYST.
gene: LYST was added gene: LYST was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: LYST was set to