LYST

lysosomal trafficking regulator
OMIM: 606897
PanelMode of inheritanceDetails
8 panels
R-numbers: R56
Signed-off version 1.121
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chediak-Higashi syndrome, OMIM:214500
R-numbers: R39
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chediak-Higashi syndrome, oculo-cutaneous albinism, optic neuropathy with progressive vision loss
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
214500 Chediak-Higashi syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHEDIAK-HIGASHI SYNDROME 214500
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHEDIAK-HIGASHI SYNDROME
R-numbers: R58
Signed-off version 2.178
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chediak-Higashi syndrome, OMIM:214500, peripheral neuropathy, Parkinsonism, spastic paraplegia
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chediak-Higashi syndrome, CHEDIAK-HIGASHI SYNDROME, CHS
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chediak-Higashi syndrome 214500, Chediak Higashi syndrome, Partial albinism, recurrent infections, fever, HSM, HLH, giant lysosomes, neutropenia, cytopenias, bleeding tendency, progressive neurological dysfunction, Diseases of Immune Dysregulation