1. Genes and Genomic Entities
  2. HTT

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 1.121

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 1.80

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 1.39

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


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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 Adult onset neurodegenerative disorder


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

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


Version 3.105
Latest signed off version: v3.0 (22 Mar 2023)

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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  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 with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    		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 Childhood onset dystonia, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • South West GLH
    Phenotypes
    • Lopes-Maciel-Rodan syndrome, OMIM:617435
    • LOMARS
    Tags
    • watchlist
    Green HTT in Severe Paediatric Disorders


    Version 1.184

    		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 1.121

    		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 1.83

    		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 1.80

    		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 - narrow panel


    Version 4.64
    Latest signed off version: v4.0 (22 Mar 2023)

    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 1.332

    		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 1.39

    		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 1.311

    		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 Childhood onset hereditary spastic paraplegia


    Version 4.43
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 Adult onset hereditary spastic paraplegia


    Version 3.21
    Latest signed off version: v3.14 (31 Jul 2023)

    		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 Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		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 with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    		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