Infantile nystagmus
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: Gene added from expert list, and rated green, diagnostic grade by the expert. Associated with Chediak-Higashi syndrome in OMIM, and is a confirmed DD gene for Chediak-Higashi Syndrome. 3 cases reported in OMIM where oculocutaneous albinism or partial oculocutaneous albinism is described, multiple different variants reported in cases with Chediak-Higashi syndrome.Created: 7 Sep 2016, 3:40 p.m.
Penny Clouston (Oxford)
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- oculo-cutaneous albinism
- Chediak-Higashi syndrome
- optic neuropathy with progressive vision loss
- OMIM
- 606897
- Clinvar variants
- Variants in LYST
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- COVID-19 research
- Infantile nystagmus
- Vici Syndrome and other autophagy disorders
- Pigmentary skin disorders
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia
- Bleeding and platelet disorders
- Inherited bleeding disorders
- Parkinson Disease and Complex Parkinsonism
- Albinism or congenital nystagmus
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary neuropathy
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Rare genetic inflammatory skin disorders
- Ocular and oculo-cutaneous albinism
- Adult onset hereditary spastic paraplegia
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for LYST were set to 8896560; 9215679; 10482950; 20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.
Created
Ellen McDonagh (Genomics England Curator)LYST was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)LYST was added to Infantile nystagmuspanel. Sources: Expert Review Green