Albinism or congenital nystagmus

Gene: LYST

Green List (high evidence)

LYST (lysosomal trafficking regulator)
EnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 25 panels

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History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LYST was added gene: LYST was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 8896560; 9215679; 20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.; 10482950 Phenotypes for gene: LYST were set to Chediak-Higashi syndrome; oculo-cutaneous albinism; optic neuropathy with progressive vision loss