Adult onset hereditary spastic paraplegia
Gene: LYSTEnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 24 panels
4 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
Chris Buxton (North Bristol NHS Trust)
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
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Yorkshire and North East GLH
- South West GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- spastic paraplegia
- Chediak-Higashi syndrome, 214500
- Spastic paraplegia
- OMIM
- 606897
- Clinvar variants
- Variants in LYST
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited bleeding disorders
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
- Ocular and oculo-cutaneous albinism
- Cytopenia - NOT Fanconi anaemia
- Rare genetic inflammatory skin disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- DDG2P
- Intellectual disability
- Infantile nystagmus
- Vici Syndrome and other autophagy disorders
- Optic neuropathy
- Pigmentary skin disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to LYST. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to LYST.
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes spastic paraplegia; Chediak-Higashi syndrome, 214500 for gene: LYST Publications for gene LYST were changed from to 24521565; 26307451; 25519961; 25519960
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to LYST.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)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)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LYST.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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