Vici Syndrome and other autophagy disorders
Gene: LYST
LYST (lysosomal trafficking regulator)
EnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000143669
EnsemblGeneIds (GRCh37): ENSG00000143669
OMIM: 606897, Gene2Phenotype
LYST is in 24 panels
2 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Radboud, Emory and Illumina note that mutations in this gene are linked to Chediak-Higashi syndrome and lysosomal storage disorders. Further evidence for the genotype-phenotype link was found in numerous literature papers, although it should be noted that in many of the cases documented, parental consanguinity was noted.Created: 19 Jun 2017, 2:11 p.m.
Ellen McDonagh (Genomics England Curator)
Is a confirmed DD gene for Chediak-Higashi Syndrome.Created: 29 Apr 2016, 7:46 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- chediak-higashi syndrome
- 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
- Fetal anomalies
- Pigmentary skin disorders
- Childhood onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Bleeding and platelet disorders
- Rare genetic inflammatory skin disorders
- Inherited bleeding disorders
- Parkinson Disease and Complex Parkinsonism
- Albinism or congenital nystagmus
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Ocular and oculo-cutaneous albinism
- Adult onset hereditary spastic paraplegia
History Filter Activity
31 Jul 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
19 Jun 2017, Gel status: 4
Set publications
Olivia Niblock (Genomics England Curator)Publications for LYST were set to 26927810; 28183707; 28145517; 26499269; 24112114; 24072239; 20368792; 14599068
19 Jun 2017, Gel status: 4
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)LYST was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
29 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)LYST was created by ellenmcdonagh