HTT

huntingtin
OMIM: 613004, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Red HTT in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Huntingtons disease (HD)
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable

Red HTT in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.55

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Huntington disease 143100
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion

Red HTT in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Huntington disease 143100
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable

Red HTT in Paroxysmal central nervous system disorders


Version 1.3
Signed off v.1.2 on 27 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Huntington disease, 143100

Red HTT in Neurodegenerative disorders - adult onset


Version 2.4
Signed off v.2.2 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
Phenotypes
  • Huntington disease 143100
  • Huntingtons disease (HD)
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable

Red HTT in Possible mitochondrial disorder - nuclear genes


Version 1.15
Signed off v.1.13 on 17 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Huntington disease, 143100

Amber HTT in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.160
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
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Lopes-Maciel-Rodan syndrome, 617435
    • LOMARS
    • Intellectual disability
    Tags
    • watchlist

    Red HTT in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.6
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Huntington disease, 143100

    Red HTT in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Brain channelopathy v1.46
    Phenotypes
    • Huntington disease 143100
    • Lopes-Maciel-Rodan syndrome, 617432
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Red HTT in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Huntington disease

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


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    Phenotypes
    • Huntington disease, 143100

    Green HTT in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lopes-Maciel-Rodan syndrome, 617435
    • Huntington disease, 143100

    Green HTT_CAG STR in Parkinson Disease and Complex Parkinsonism

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.68

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR
    • anticipation

    Green HTT_CAG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR

    No list HTT_CAG STR in Brain channelopathy

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.55

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR

    Green HTT_CAG STR in Ataxia and cerebellar anomalies - narrow panel


    Version 2.6
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR

    Green HTT_CAG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR

    No list HTT_CAG STR in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.17

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR

    Green HTT_CAG STR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.215

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR

    Amber HTT_CAG STR in Hereditary spastic paraplegia - childhood onset


    Version 2.12
    Signed off v.2.8 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR

    Amber HTT_CAG STR in Hereditary spastic paraplegia - adult onset


    Version 1.7
    Signed off v.1.3 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert list
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR

    Green HTT_CAG STR in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR

    Green HTT_CAG STR in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR

    Green HTT_CAG STR in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Huntington disease 143100
    Tags
    • STR