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Hereditary spastic paraplegia - childhood onset v1.166 LYST Louise Daugherty commented on gene: LYST: Amber gene with Green 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.
Hereditary spastic paraplegia - childhood onset v1.164 LYST Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - childhood onset v1.75 LYST Louise Daugherty Source Yorkshire and North East GLH was added to LYST.
Hereditary spastic paraplegia - childhood onset v1.74 LYST Nick Beauchamp reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - childhood onset v1.74 LYST Louise Daugherty commented on gene: LYST: 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.
Hereditary spastic paraplegia - childhood onset v1.59 LYST Louise Daugherty edited their review of gene: LYST: Added comment: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on publications: PMIDs:25519960 and 25519961 are in Japanese.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Comment on list classification: Updated rating from Red to Amber. Gene added to panel by Chris Buxton (Bristol NHS) based on one family in PMID:24521565. In addition, progressive spastic paraparesis seen in affected siblings in PMID:26307451, and PMIDs 25519960 and 25519961 describe LYST as a potential HSP locus. Further cases required for a diagnostic rating.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:26307451 (Desai et al 2016) report 3 affected siblings with the late-onset form of CHS, and phenotypes including progressive spastic paraparesis.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:24521565 (Shimazaki et al 2014) include 2 patients in a Japanese family with parents who are first cousins. They detected a homozygous missense variant (c.4189T>G, p.F1397V) in the LYST gene. The patients had adult Chediak-Higashi syndrome (CHS) presenting spastic paraplegia with cerebellar ataxia and neuropathy.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Comment on list classification: This gene is awaiting curator evaluation and rating.
Sarah Leigh (Genomics England Curator), 19 Dec 2018

Shimazaki (2014, 24521565), homozygous LYST (c.4189T>G, p.F1397V). Gene predominantly associated with Chediak-Higashi syndrome. one publication describing a HSP like phenotype. Diagnostic on Sheffield HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 28 Nov 2018; Changed publications: 25519960, 25519961, 24521565, 26307451, 25519960, 25519961
Hereditary spastic paraplegia - childhood onset v1.59 LYST Louise Daugherty Classified gene: LYST as Amber List (moderate evidence)
Hereditary spastic paraplegia - childhood onset v1.59 LYST Louise Daugherty Gene: lyst has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - childhood onset v1.48 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - childhood onset v1.42 LYST Louise Daugherty Classified gene: LYST as Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v1.42 LYST Louise Daugherty Gene: lyst has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - childhood onset v1.6 LYST James Polke reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: spastic paraplegia, Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - childhood onset v1.5 LYST Louise Daugherty Source NHS GMS was added to LYST.
Hereditary spastic paraplegia - childhood onset v1.4 LYST Louise Daugherty Source London North GLH was added to LYST.
Hereditary spastic paraplegia - childhood onset v1.3 LYST Louise Daugherty Added phenotypes spastic paraplegia; Chediak-Higashi syndrome, 214500 for gene: LYST
Publications for gene LYST were changed from 24521565; 26307451; 25519960; 25519961 to 24521565; 26307451; 25519961; 25519960
Hereditary spastic paraplegia - childhood onset v0.53 LYST Rebecca Foulger Classified gene: LYST as Amber List (moderate evidence)
Hereditary spastic paraplegia - childhood onset v0.53 LYST Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.53 LYST Rebecca Foulger Gene: lyst has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - childhood onset v0.52 LYST Rebecca Foulger Phenotypes for gene: LYST were changed from spastic paraplegia to spastic paraplegia; Chediak-Higashi syndrome, 214500
Hereditary spastic paraplegia - childhood onset v0.51 LYST Rebecca Foulger Publications for gene: LYST were set to 24521565
Hereditary spastic paraplegia - childhood onset v0.6 LYST Sarah Leigh gene: LYST was added
gene: LYST was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 24521565
Phenotypes for gene: LYST were set to spastic paraplegia