PRNP_CJD_octapeptide

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PRNP_CJD_octapeptide STR in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Creutzfeldt-Jakob disease MIM#123400
  • Gerstmann-Straussler disease MIM#137440

Green PRNP_CJD_octapeptide STR in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Creutzfeldt-Jakob disease MIM#123400
  • Gerstmann-Straussler disease MIM#137440

Green PRNP_CJD_octapeptide STR in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Creutzfeldt-Jakob disease MIM#123400
  • Gerstmann-Straussler disease MIM#137440

Green PRNP_CJD_octapeptide STR in Dystonia and Chorea


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Creutzfeldt-Jakob disease MIM#123400
  • Gerstmann-Straussler disease MIM#137440
Tags
  • adult-onset

Green PRNP_CJD_octapeptide STR in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Creutzfeldt-Jakob disease MIM#123400
  • Gerstmann-Straussler disease MIM#137440

Green PRNP_CJD_octapeptide STR in Repeat Disorders


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Creutzfeldt-Jakob disease MIM#123400
  • Gerstmann-Straussler disease MIM#137440
Tags
  • adult-onset