Optic neuropathy
Gene: LYSTEnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 24 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: 3 siblings.Created: 7 Sep 2016, 3:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Optic neuropathy in late-onset neurodegenerative Chédiak–Higashi syndrome lacking features of ocular albinism
Publications
- PMID: 26307451
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- Expert Review Red
- Literature
- Phenotypes
-
- Optic neuropathy in late-onset neurodegenerative Chédiak–Higashi syndrome lacking features of ocular albinism
- OMIM
- 606897
- Clinvar variants
- Variants in LYST
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia, childhood onset
- Optic neuropathy
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia
- Hereditary neuropathy
- Albinism or congenital nystagmus
- Neurodegenerative disorders, adult onset
- Inherited bleeding disorders
- DDG2P
- Bleeding and platelet disorders
- Rare genetic inflammatory skin disorders
- Cytopenia - NOT Fanconi anaemia
- Ocular and oculo-cutaneous albinism
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Fetal anomalies
- Early onset or syndromic epilepsy
- Hereditary spastic paraplegia, adult onset
- Pigmentary skin disorders
- COVID-19 research
- Infantile nystagmus
- Vici Syndrome and other autophagy disorders
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: LYST were set to PMID: 26307451
Added New Source
Ivone Leong (Genomics England Curator)Source London North GLH was added to LYST.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)LYST was added to Inherited optic neuropathiespanel. Sources: Literature
Created
Ellen McDonagh (Genomics England Curator)LYST was created by ellenmcdonagh