CTNS

cystinosin, lysosomal cystine transporter
OMIM: 606272, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green CTNS in Lysosomal storage disorder


Version 1.74
Latest signed off version: v1.2 (18 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Cystinosis, atypical nephropathic OMIM:219800
  • Cystinosis, nephropathic OMIM:219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900
  • Cystinosis, ocular nonnephropathic OMIM:219750
  • nephropathic cystinosis MONDO:0100151
  • juvenile nephropathic cystinosis MONDO:0009066
  • ocular cystinosis MONDO:0009064

Green CTNS in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.96

Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Cystinosis, atypical nephropathic 219800
    • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
    • Cystinosis, nephropathic 219800

    Green CTNS in Unexplained paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Cystinosis, atypical nephropathic 219800
    • Cystinosis, nephropathic 219800
    • Cystinosis, late-onset juvenile or adolescent nephropathic 219900

    Green CTNS in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    Phenotypes
    • Cystinosis, atypical nephropathic 219800
    • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
    • Cystinosis, nephropathic 219800
    • Cystinosis, ocular nonnephropathic 219750

    Green CTNS in Inborn errors of metabolism


    Version 2.180
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Cystinosis, atypical nephropathic

    Red CTNS in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CYSTINOSIS NEPHROPATHIC TYPE
    • CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
    • CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE

    Green CTNS in DDG2P


    Version 2.44
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750
    • CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900
    • CYSTINOSIS NEPHROPATHIC TYPE 219800

    Green CTNS in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.27
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Emory Genetics Laboratory
    • Expert Review
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Cystinosis, atypical nephropathic 219800
    • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
    • Cystinosis, nephropathic 219800
    • Cystinosis, ocular nonnephropathic 219750

    Red CTNS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1277
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Cystinosis, nephropathic, 219800
    • Cystinosis, ocular
    • nonnephropathic, 219750
    • Cystinosis, late-onset juvenile or adolescent nephropathic, 219900
    • Cystinosis, atypical nephropathic, 219800

    Red CTNS in Childhood onset dystonia or chorea or related movement disorder


    Version 1.152
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green CTNS in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cystinosis, atypical nephropathic, 219800
    • Cystinosis, late-onset juvenile or adolescent nephropathic, 219900
    • Cystinosis, ocular nonnephropathic, 219750
    • Cystinosis, nephropathic, 219800