Hereditary Neuropathy - complex

Gene: LYST

Green List (high evidence)

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Neuropathy features with a childhood to early adult onset is a suspected clinical feature of Chediak-Higashi syndrome (CHS)

PMID: 24521565
two siblings from a consanguineous family
with spastic paraplegia, cerebella ataxia and peripheral neuropathy
Identified a homozygous mutation in LYST.

PMID: 15790783
Patient with CHS at 2.5 yr old.
Identified with R1103X mutation and electrophysiological studies showed moderate distal motor-snesory axonal neuropathy.
Created: 14 Jul 2023, 1:12 a.m. | Last Modified: 14 Jul 2023, 1:12 a.m.
Panel Version: 0.169

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chediak-Higashi syndrome MIM#214500; MONDO:0008963

Publications

History Filter Activity

24 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lyst has been classified as Green List (High Evidence).

24 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LYST were changed from Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500 to Chediak-Higashi syndrome MIM#214500; MONDO:0008963

24 Jul 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LYST were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LYST was added gene: LYST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYST were set to Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500