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 1.70

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Huntington disease-like 2 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 1.48

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Huntington disease-like 2 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 1.89

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Huntington disease-like 2 606438
Tags
  • STR

Amber JPH3_CTG STR in Neurodegenerative disorders - adult onset


Version 2.201
Latest signed off version: v2.178 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert list
Phenotypes
  • Huntington disease-like 2 606438
Tags
  • STR

Green JPH3_CTG STR in Adult onset movement disorder


Version 1.125
Latest signed off version: v1.121 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Huntington disease-like 2 606438
Tags
  • STR