NPC2

NPC intracellular cholesterol transporter 2
OMIM: 601015, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red NPC2 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.12

review Not set
Sources
  • Emory Genetics Laboratory

Green NPC2 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Niemann-Pick disease type C2, 607625

Red NPC2 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.89

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Green NPC2 in Ataxia and cerebellar anomalies - narrow panel


Version 2.241
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Niemann-Pick disease type C2, 607625

    Green NPC2 in Cholestasis


    Version 1.88
    Latest signed off version: v1.21 (20 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    Phenotypes
    • Neonatal and Adult Cholestasis
    • Niemann-Pick disease type C2, 607625

    Green NPC2 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
    • Niemann-pick disease, type C2 OMIM:607625
    • Niemann-Pick disease, type C2 MONDO:0011873

    Green NPC2 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.245

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Niemann-Pick disease type C2 (#607625)

    Green NPC2 in Neurodegenerative disorders - adult onset


    Version 2.201
    Latest signed off version: v2.178 (5 Aug 2021)

    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
    • Dystonia
    • Niemann-Pick disease, type C2, OMIM:607625

    Green NPC2 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
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    Phenotypes
    • Niemann-pick disease, type C2 607625

    Green NPC2 in Inborn errors of metabolism


    Version 2.188
    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
    • Niemann-Pick disease type C2, 607625

    Green NPC2 in Fetal anomalies


    Version 1.735
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NIEMANN-PICK DISEASE, TYPE C2

    Green NPC2 in DDG2P


    Version 2.50
    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
    • NIEMANN-PICK DISEASE, TYPE C2 607625

    Green NPC2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1378
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • NIEMANN-PICK DISEASE, TYPE C2

    Green NPC2 in Hereditary ataxia - adult onset


    Version 2.90
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Niemann-Pick disease type C2 (#607625)
    • Niemann-Pick disease type C2, 607625

    Red NPC2 in Adult onset movement disorder


    Version 1.125
    Latest signed off version: v1.121 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Niemann-pick disease, type C2, 607625
    • Dystonia

    Green NPC2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.160
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Niemann-pick disease, type C2, 607625

    Green NPC2 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Niemann-pick disease, type C2, 607625