Adult onset dystonia, chorea or related movement disorder
Gene: LYSTEnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 24 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Suggested by Huw and RaquelCreated: 23 Apr 2019, 1:13 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Chediak-Higashi syndrome, OMIM:214500
- OMIM
- 606897
- Clinvar variants
- Variants in LYST
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited bleeding disorders
- Adult onset hereditary spastic paraplegia
- Intellectual disability
- Fetal anomalies
- DDG2P
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ocular and oculo-cutaneous albinism
- Cytopenia - NOT Fanconi anaemia
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- COVID-19 research
- Infantile nystagmus
- Vici Syndrome and other autophagy disorders
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Pigmentary skin disorders
- Childhood onset hereditary spastic paraplegia
- Parkinson Disease and Complex Parkinsonism
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LYST were changed from albinism; peripheral neuropathy; Chediak-Higashi syndrome 214500; Parkinsonism to Chediak-Higashi syndrome, OMIM:214500
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LYST.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to LYST.
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 Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 11857544; 9215680; 8896560; 9215679; 23436631 Phenotypes for gene: LYST were set to albinism; peripheral neuropathy; Chediak-Higashi syndrome 214500; Parkinsonism