Genomics England

LYST

lysosomal trafficking regulator

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Chediak-Higashi syndrome, OMIM:214500
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 6.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Chediak-Higashi syndrome, OMIM:214500, peripheral neuropathy, Parkinsonism, spastic paraplegia
Green in Albinism or congenital nystagmus R-numbers: R39 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Chediak-Higashi syndrome, oculo-cutaneous albinism, optic neuropathy with progressive vision loss
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 214500 Chediak-Higashi syndrome
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CHEDIAK-HIGASHI SYNDROME 214500
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CHEDIAK-HIGASHI SYNDROME
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Chediak-Higashi syndrome, 214500, Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Chediak-Higashi syndrome, CHEDIAK-HIGASHI SYNDROME, CHS
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.12	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