JPH3_CTG

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green JPH3_CTG STR in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.120

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Huntington disease-like 2, OMIM:606438
Tags
  • STR
Green JPH3_CTG 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
  • Huntington disease-like 2, OMIM:606438
Tags
  • STR
Green JPH3_CTG STR in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Huntington disease-like 2, OMIM:606438
Tags
  • STR
Green JPH3_CTG STR in Adult onset neurodegenerative disorder


Version 4.46
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-like 2, OMIM:606438
Tags
  • STR
Green JPH3_CTG 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
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Huntington disease-like 2, OMIM:606438
Tags
  • STR