Structural basal ganglia disorders

Gene: PRNP

Green List (high evidence)

PRNP (prion protein)
EnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 14 panels

1 review

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cerebral amyloid angiopathy, PRNP-related 137440
  • Gerstmann-Straussler disease 137440
  • Huntington disease-like 1 603218
  • Creutzfeldt-Jakob disease 123400
OMIM
176640
Clinvar variants
Variants in PRNP
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Mar 2017, Gel status: 3

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

7 Sep 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

PRNP was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen

7 Sep 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

PRNP was added to Structural basal ganglia disorderspanel. Source: UKGTN

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PRNP was added to Structural basal ganglia disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PRNP was created by sleigh