Hereditary spastic paraplegia

Gene: LYST

I don't know

Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019

Created: 3 May 2019, 8:36 a.m.

Comment on publications: PMIDs:25519960 and 25519961 are in Japanese.

Created: 8 Jan 2019, 3:42 p.m.

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.

Created: 8 Jan 2019, 3:42 p.m.

PMID:26307451 (Desai et al 2016) report 3 affected siblings with the late-onset form of CHS, and phenotypes including progressive spastic paraparesis.

Created: 8 Jan 2019, 3:37 p.m.

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.

Created: 8 Jan 2019, 3:37 p.m.

Comment on list classification: This gene is awaiting curator evaluation and rating.

Created: 19 Dec 2018, 2:12 p.m.

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

Created: 28 Nov 2018, 9:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spastic paraplegia

Publications

• 24521565