Parkinson Disease and Complex Parkinsonism
Gene: LYSTEnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 24 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed Amber to Green from external review comment and internal clinical review and is appropriate to have on the parkinsonims panel as some subclinical forms ofCreated: 24 Jul 2018, 12:19 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed in OMIM and publications.Created: 1 Jun 2018, 12:20 p.m.
Comment on list classification: This gene was added by a reviewer. More than 3 cases reported for variants in this gene and Chediak-Higashi syndrome. Clinical synposis for this disorder in OMIM includes Progressive intellectual decline, Neurodegeneration, Tremor, Progressive peripheral neuropathy. Awaiting confirmation from the internal Genomics England team that this gene is suitable to be made green on this panel.Created: 1 Jun 2018, 12:20 p.m.
alisdair mcneill (Sheffield childrens hospital)
multiple case reports of Parkinsonism in Chediak-Higashi syndrome.Created: 16 Apr 2018, 9:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinsonism; albinism; peripheral neuropathy
Publications
- https://www.ncbi.nlm.nih.gov/pubmed/23436631
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Parkinsonism
- albinism
- peripheral neuropathy
- Chediak-Higashi syndrome 214500
- OMIM
- 606897
- Clinvar variants
- Variants in LYST
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Ocular and oculo-cutaneous albinism
- Cytopenia - NOT Fanconi anaemia
- Bleeding and platelet disorders
- COVID-19 research
- Infantile nystagmus
- Adult onset neurodegenerative disorder
- Vici Syndrome and other autophagy disorders
- Optic neuropathy
- Early onset or syndromic epilepsy
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Pigmentary skin disorders
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: lyst has been classified as Green List (High Evidence).
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: LYST was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: lyst has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: LYST were set to 23436631; 8896560; 9215679; 9215680; 11857544
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: LYST were set to 23436631; 8896560; 9215679; 9215680
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: LYST were set to 23436631; 8896560; 9215679
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: LYST were set to 23436631; 8896560
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: LYST were set to Parkinsonism; albinism; peripheral neuropathy; Chediak-Higashi syndrome 214500
Added New Source
alisdair mcneill (Sheffield childrens hospital)LYST was added to Parkinson Disease and Complex Parkinsonism panel. Sources: Other
Created
alisdair mcneill (Sheffield childrens hospital)LYST was created by alisdair mcneill