Pain syndromes

Gene: PRNP

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: reformatted phenotype listing
Created: 19 Sep 2017, 11:35 a.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green following Dave Bennett's comments
Created: 19 Sep 2017, 10:58 a.m.
Expert reviewer comments (Dave Bennett): A relatively recently described syndrome in which truncated forms of Prion are secreted and deposited inn peripheral nerves and tissues. This can result in the early stages in a clinical picture of hereditary sensory and autonomic neuropathy, with early onset diarrhoea and at later stages cognitive problems develop.
Created: 19 Sep 2017, 10:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral amyloid angiopathy, PRNP-related 137440

Publications

History Filter Activity

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PRNP were set to Cerebral amyloid angiopathy, PRNP-related, 137440

19 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Sep 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

PRNP was added to Pain syndromespanel. Sources: Expert Review

19 Sep 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

PRNP was created by arianna