C9orf72_GGGGCC

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green C9orf72_GGGGCC 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
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Tags
  • STR
Green C9orf72_GGGGCC 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 list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Tags
  • STR
Green C9orf72_GGGGCC STR in Adult onset neurodegenerative disorder


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • London North GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Tags
  • STR
Green C9orf72_GGGGCC STR in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.69

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Tags
  • STR
No list C9orf72_GGGGCC STR in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.21
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
    Tags
    • STR
    • curated_removed
    Green C9orf72_GGGGCC STR in Adult onset dystonia, chorea or related movement disorder


    Version 3.19
    Latest signed off version: v3.12 (31 Jul 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
    Tags
    • STR
    Red C9orf72_GGGGCC STR in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    • London North GLH
    • NHS GMS
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
    Tags
    • STR