Hereditary ataxia

Gene: PRNP

Green List (high evidence)

PRNP (prion protein)
EnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 13 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed internally and promoted to green. This gene is on the Autosomal Dominant Ataxia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Variant tanderm octapeptide coding repeats have been reported as pathogenic, as well as multiple missense variants, in OMIM. Several missense variants previously reported have been reclassified.
Created: 23 Aug 2016, 9:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Autosomal Dominant Ataxia

History Filter Activity

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

23 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PRNP were set to Autosomal Dominant Ataxia;Creutzfeldt-Jakob disease;Gerstmann-Straussler disease;Huntington disease-like 1;Insomnia, fatal familial

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

23 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PRNP was added to Hereditary ataxiapanel. Sources: Expert list

23 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PRNP was created by ellenmcdonagh