Hereditary Spastic Paraplegia - adult onset
Gene: LYST

LYST (lysosomal trafficking regulator)
EnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 18 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Three cases reported with spastic paraplegia or spasticity.
Created: 19 Apr 2020, 11:10 a.m. | Last Modified: 19 Apr 2020, 11:10 a.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chediak-Higashi syndrome MIM#214500

Publications

Created: 19 Apr 2020, 11:10 a.m.
Last Modified: 19 Apr 2020, 11:10 a.m.
Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Royal Melbourne Hospital

Phenotypes

spastic paraplegia
Spastic paraplegia
Chediak-Higashi syndrome, 214500

OMIM

606897

Clinvar variants

Variants in LYST

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lyst has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: LYST was added gene: LYST was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 26307451; 24521565 Phenotypes for gene: LYST were set to spastic paraplegia; Spastic paraplegia; Chediak-Higashi syndrome, 214500

Hereditary Spastic Paraplegia - adult onset Gene: LYST