Inherited bleeding 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
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chediak-Higashi syndrome (CHS)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chediak-Higashi syndrome (CHS)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Chediak-Higashi syndrome (CHS)
- OMIM
- 606897
- Clinvar variants
- Variants in LYST
- Penetrance
- Complete
- Panels with this gene
-
- Inherited bleeding disorders
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
- Ocular and oculo-cutaneous albinism
- 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
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- DDG2P
- Infantile nystagmus
- Vici Syndrome and other autophagy disorders
- Optic neuropathy
- Intellectual disability
- Pigmentary skin disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
History Filter Activity
19 Dec 2016, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
19 Dec 2016, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)LYST was added to Inherited bleeding disorderspanel. Source: Expert Review Green
9 Sep 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)LYST was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
9 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)LYST was created by ellenmcdonagh