Genes in panel

Hereditary neuropathy

Gene: PRNP

Green List (high evidence)

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

5 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Just one family
Created: 29 Apr 2019, 9:20 a.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by a reviewer, with a second green review.
Created: 9 May 2016, 8:56 a.m.

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PRNP.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PRNP. Rating Changed from Green List (high evidence) to Green List (high evidence)

8 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

8 Jul 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for PRNP were set to 24224623

8 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

9 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

PRNP was created by MReilly-925

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

PRNP was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review