LYST

lysosomal trafficking regulator
OMIM: 606897, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Green LYST in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • oculo-cutaneous albinism
  • Chediak-Higashi syndrome
  • optic neuropathy with progressive vision loss
Green LYST in Ocular and oculo-cutaneous albinism


Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • oculo-cutaneous albinism
  • Chediak-Higashi syndrome
  • optic neuropathy with progressive vision loss
Green LYST in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Parkinsonism
  • albinism
  • peripheral neuropathy
  • Chediak-Higashi syndrome 214500
Green LYST in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
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
Green LYST in Vici Syndrome and other autophagy disorders

Level 3: Autophagy disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • chediak-higashi syndrome
Green LYST in Pigmentary skin disorders


Level 2: Dermatology
Version 5.13
Latest signed off version: v5.12 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Chediak-Higashi syndrome
  • CHEDIAK-HIGASHI SYNDROME
  • CHS
Amber LYST in Rare genetic inflammatory skin disorders


Level 2: Dermatology
Version 4.26
Latest signed off version: v4.25 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Green LYST in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Chediak-Higashi syndrome (CHS)
Green LYST in Albinism or congenital nystagmus


Level 2: Ophthalmology
Version 4.13
Latest signed off version: v4.12 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Chediak-Higashi syndrome
  • oculo-cutaneous albinism
  • optic neuropathy with progressive vision loss
Green LYST in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.105
Latest signed off version: v9.91 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
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
Tags
  • age-specific-variation
Amber LYST in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.316

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • spastic paraplegia
  • Chediak-Higashi syndrome, 214500
Red LYST in Optic neuropathy


Level 2: Ophthalmology
Version 6.51
Latest signed off version: v6.46 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • Expert Review Red
  • Literature
Phenotypes
  • Optic neuropathy in late-onset neurodegenerative Chédiak–Higashi syndrome lacking features of ocular albinism
Amber LYST in Hereditary spastic paraplegia, childhood onset


Level 2: Neurology
Version 9.11
Latest signed off version: v9.7 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • Expert Review Amber
  • NHS GMS
  • London North GLH
  • Literature
Phenotypes
  • spastic paraplegia
  • Chediak-Higashi syndrome, 214500
Green LYST in Bleeding and platelet disorders


Level 2: Haematology
Version 4.17
Latest signed off version: v4.16 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 214500 Chediak-Higashi syndrome
Red LYST in Cytopenia - NOT Fanconi anaemia


Level 2: Haematology
Version 5.8
Latest signed off version: v5.7 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Chediak-Higashi syndrome, 214500
Amber LYST in Hereditary spastic paraplegia, adult onset


Level 2: Neurology
Version 6.14
Latest signed off version: v6.13 (12 Aug 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • spastic paraplegia
    • Chediak-Higashi syndrome, 214500
    • Spastic paraplegia
    Green LYST in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Chediak-Higashi syndrome, OMIM:214500
    • peripheral neuropathy
    • Parkinsonism
    • spastic paraplegia
    Green LYST in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CHEDIAK-HIGASHI SYNDROME
    Green LYST in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CHEDIAK-HIGASHI SYNDROME 214500
    Green LYST in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.513

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Chediak-Higashi syndrome, 214500
    • Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
    Amber LYST in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert list
    Phenotypes
    • Chediak-Higashi syndrome 214500
    Red LYST in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO
    • Chediak-Higashi syndrome, 214500
    Green LYST in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.9
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Chediak-Higashi syndrome, OMIM:214500
    Green LYST in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.32
    Latest signed off version: v8.30 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Chediak-Higashi syndrome, 214500
    • Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy