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BabyScreen+ newborn screening

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

David Amor (Murdoch Children's Research Institute)

Green List (high evidence)

Gene-disease association: strong. Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism, immunodeficiency, and a mild bleeding tendency. Approximately 85% of affected individuals develop the accelerated phase, or hemophagocytic lymphohistiocytosis, a life-threatening, hyperinflammatory condition. All affected individuals including adolescents and adults with atypical CHS and children with classic CHS who have successfully undergone allogenic hematopoietic stem cell transplantation (HSCT) develop neurologic findings during early adulthood.

Onset: birth

Treatment: Initial chemoimmunotherapy followed by allogenic HSCT as soon as possible to cure hematologic and immunologic defects
Created: 26 Sep 2022, 7:44 a.m. | Last Modified: 26 Sep 2022, 7:44 a.m.
Panel Version: 0.205

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chediak-Higashi syndrome

Created: 26 Sep 2022, 7:44 a.m.
Last Modified: 26 Sep 2022, 7:44 a.m.
Panel version: 0.205

History Filter Activity

30 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

29 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag immunological tag was added to gene: LYST.

27 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: LYST.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LYST was added gene: LYST was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM#214500