Infantile nystagmus

Gene: LYST

Green List (high evidence)

LYST (lysosomal trafficking regulator)
EnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 26 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

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.

Penny Clouston (Oxford)

Green List (high evidence)

Phenotypes
oculo-cutaneous albinism

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

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.

19 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LYST was created by ellenmcdonagh

19 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LYST was added to Infantile nystagmuspanel. Sources: Expert Review Green