1. Genes and Genomic Entities
  2. HTT

HTT

huntingtin
OMIM: 613004, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels
Red HTT in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review Other
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Huntington disease, OMIM:143100
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable
Red HTT in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review Other
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Huntington disease, OMIM: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 1.40

review Other
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Huntington disease, OMIM:143100
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable
Red HTT in Paroxysmal central nervous system disorders


Level 2: Neurology
Version 4.7
Latest signed off version: v4.6 (12 Aug 2026)

review Other
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Huntington disease, OMIM:143100
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable
Red HTT in Neurodegenerative disorders, adult onset


Level 2: Neurology
Version 9.11
Latest signed off version: v9.4 (12 Aug 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review Other
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red HTT in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.23
    Latest signed off version: v5.17 (12 Aug 2026)

    		review Other
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Amber HTT in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Lopes-Maciel-Rodan syndrome, OMIM:617435
    • LOMARS
    Tags
    • watchlist
    Red HTT in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.23
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review Other
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red HTT in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review Other
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Brain channelopathy v1.46
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red HTT in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.9
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review Other
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Amber HTT in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • South West GLH
    Phenotypes
    • Lopes-Maciel-Rodan syndrome, OMIM:617435
    • LOMARS
    Tags
    • watchlist
    Green HTT_CAG STR in Parkinson Disease and Complex Parkinsonism

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.128

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • STR
    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 1.85

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • STR
    No list HTT_CAG STR in Brain channelopathy

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • STR
    • curated_removed
    No list HTT_CAG STR in Ataxia and cerebellar anomalies - childhood onset


    Level 2: Neurology
    Version 9.32
    Latest signed off version: v9.22 (12 Aug 2026)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • STR
    • curated_removed
    Green HTT_CAG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Huntington disease, OMIM: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 1.40

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • STR
    • curated_removed
    Green HTT_CAG STR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.316

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • STR
    No list HTT_CAG STR in Hereditary spastic paraplegia, childhood onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.7 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • STR
    • curated_removed
    No list HTT_CAG STR in Hereditary spastic paraplegia, adult onset


    Level 2: Neurology
    Version 6.14
    Latest signed off version: v6.13 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert list
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • STR
    • curated_removed
    Green HTT_CAG STR in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert list
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • STR
    No list HTT_CAG STR in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert list
    Phenotypes
    • Huntington disease, OMIM:143100
    Tags
    • STR
    • curated_removed
    No list HTT_CAG STR in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.9
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

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