Pigmentary skin 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
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHEDIAK-HIGASHI SYNDROME; CHS
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: LYST; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Chediak-Higashi syndrome
- CHEDIAK-HIGASHI SYNDROME
- CHS
- OMIM
- 606897
- Clinvar variants
- Variants in LYST
- Penetrance
- None
- 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
12 Dec 2019, Gel status: 3
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes CHEDIAK-HIGASHI SYNDROME; CHS for gene: LYST Publications for gene LYST were changed from to 8896560
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to LYST.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: LYST was added gene: LYST was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYST were set to Chediak-Higashi syndrome