Albinism or congenital nystagmus
Gene: LYST
LYST (lysosomal trafficking regulator)
EnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 24 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Chediak-Higashi syndrome
- oculo-cutaneous albinism
- optic neuropathy with progressive vision loss
- OMIM
- 606897
- Clinvar variants
- Variants in LYST
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited bleeding disorders
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
- Ocular and oculo-cutaneous albinism
- Cytopenia - NOT Fanconi anaemia
- Rare genetic inflammatory skin disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- DDG2P
- Infantile nystagmus
- Vici Syndrome and other autophagy disorders
- Optic neuropathy
- Intellectual disability
- Pigmentary skin disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
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