This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Chediak-Higashi syndrome, 214500
- OMIM
- 606897
- Clinvar variants
- Variants in LYST
- Penetrance
- Complete
- 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
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)LYST was added to Undiagnosed neurocutaneous disorderspanel. Sources: Literature
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)LYST was created by rfoulger