Ocular and Oculocutaneous Albinism
Gene: LYST
LYST (lysosomal trafficking regulator)
EnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, partial albinism in addition to neutropaenia, abnormal susceptibility to infection, and malignancy risk.Created: 4 Jun 2021, 8:36 a.m. | Last Modified: 4 Jun 2021, 8:36 a.m.
Panel Version: 0.44
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chediak-Higashi syndrome, MIM# 214500
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Chediak-Higashi syndrome, MIM# 214500
- OMIM
- 606897
- Clinvar variants
- Variants in LYST
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Ocular and Oculocutaneous Albinism
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Congenital nystagmus
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Early-onset Parkinson disease
- Disorders of immune dysregulation
- Hereditary Spastic Paraplegia - adult onset
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- IBMDx study
- Prepair 500+
History Filter Activity
4 Jun 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lyst has been classified as Green List (High Evidence).
4 Jun 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM# 214500
4 Jun 2021, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LYST was added gene: LYST was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LYST was set to Unknown