HTT

huntingtin
OMIM: 613004, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

No list HTT in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.49

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review Unknown
    Sources
    • Expert Review Removed
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Tags
    • STR

    No list HTT in Incidentalome


    Version 0.402

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Huntington disease, MIM# 143100
    Tags
    • STR

    Amber HTT in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Lopes-Maciel-Rodan syndrome, 617435
    • LOMARS
    • Intellectual disability

    Green HTT_HD_CAG STR in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.49

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Huntington disease MIM#143100
    Tags
    • STR

    Green HTT_HD_CAG STR in Incidentalome


    Version 0.402

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Huntington disease MIM#143100

    Green HTT_HD_CAG STR in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.337

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Huntington disease MIM#143100
    Tags
    • adult-onset

    Green HTT_HD_CAG STR in Repeat Disorders


    Version 0.272

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Huntington disease MIM#143100
    Tags
    • adult-onset