Ocular and oculo-cutaneous albinism
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
-
- Childhood onset hereditary spastic paraplegia
- Ocular and oculo-cutaneous albinism
- Intellectual disability
- 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
- Bleeding and platelet disorders
- DDG2P
- Infantile nystagmus
- Vici Syndrome and other autophagy disorders
- Optic neuropathy
- Pigmentary skin disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
- Inherited bleeding disorders
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)13.09.2016: Panel internally revised after expert review, and approved to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for LYST was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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."
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LYST were set to oculo-cutaneous albinism; Chediak-Higashi syndrome;optic neuropathy with progressive vision loss
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LYST were set to 8896560;9215679;10482950
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LYST were set to oculo-cutaneous albinism;Chediak-Higashi syndrome
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Penny Clouston (Oxford)LYST was created by PennyC
Added New Source
Penny Clouston (Oxford)LYST was added to Ocular and oculo-cutaneous albinismpanel. Sources: Expert list