Vici Syndrome and other autophagy disordersGene: LYST
Comment on list classification: Radboud, Emory and Illumina note that mutations in this gene are linked to Chediak-Higashi syndrome and lysosomal storage disorders. Further evidence for the genotype-phenotype link was found in numerous literature papers, although it should be noted that in many of the cases documented, parental consanguinity was noted.
Created: 19 Jun 2017, 2:11 p.m.
Is a confirmed DD gene for Chediak-Higashi Syndrome.
Created: 29 Apr 2016, 7:46 a.m.
31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
Publications for LYST were set to 26927810; 28183707; 28145517; 26499269; 24112114; 24072239; 20368792; 14599068
This gene has been classified as Green List (High Evidence).
LYST was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
LYST was created by ellenmcdonagh