LYST

lysosomal trafficking regulator
OMIM: 606897, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Green LYST in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.3

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 1.21

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 1.68

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 1.73

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 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • chediak-higashi syndrome

Green LYST in Pigmentary skin disorders


Version 1.9
Signed off v.1.4 on 15 Oct 2020

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


Version 1.7
Signed off v.1.6 on 15 Oct 2020

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 1.156

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


Version 1.17
Signed off v.1.2 on 3 Mar 2020

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


Version 2.392
Signed off v.2.1 on 24 Feb 2020

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 1.219

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

Red LYST in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.29
Signed off v.2.2 on 19 Feb 2020

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


Version 2.25
Signed off v.2.18 on 8 Oct 2020

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


Version 1.19
Signed off v.1.2 on 3 Mar 2020

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


Version 1.35
Signed off v.1.29 on 15 Oct 2020

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


Version 1.16
Signed off v.1.12 on 15 Oct 2020

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


Version 2.38
Signed off v.2.31 on 8 Oct 2020

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 214500
  • peripheral neuropathy
  • Parkinsonism
  • albinism
  • spastic paraplegia

Green LYST in Fetal anomalies


Version 1.185
Signed off v.1.92 on 21 Aug 2020

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

Green LYST in DDG2P


Version 2.18
Signed off v.2.2 on 13 Feb 2020

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 1.383

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.274
    Signed off v.2.2 on 13 Feb 2020

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 Adult onset movement disorder


    Version 1.16
    Signed off v.1.14 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • albinism
    • peripheral neuropathy
    • Chediak-Higashi syndrome 214500
    • Parkinsonism

    Amber LYST in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

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

    Green LYST in Severe Paediatric Disorders


    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chediak-Higashi syndrome, 214500