Infantile nystagmusGene: LYST
Comment on list classification: Gene added from expert list, and rated green, diagnostic grade by the expert. Associated with Chediak-Higashi syndrome in OMIM, and is a confirmed DD gene for Chediak-Higashi Syndrome. 3 cases reported in OMIM where oculocutaneous albinism or partial oculocutaneous albinism is described, multiple different variants reported in cases with Chediak-Higashi syndrome.
Created: 7 Sep 2016, 3:40 p.m.
Variants in this GENE are reported as part of current diagnostic practice
21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.
This gene has been classified as Green List (High Evidence).
Publications for LYST were set to 8896560; 9215679; 10482950; 20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.
LYST was created by ellenmcdonagh
LYST was added to Infantile nystagmuspanel. Sources: Expert Review Green