Hereditary neuropathy
Gene: PEX7

PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels

6 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.

Created: 29 Apr 2019, 9:26 a.m.

Panel version: 1.352

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

Green List (high evidence)

Created: 29 Apr 2019, 9:20 a.m.

Panel version: 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

I don't know

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: G2P
Created: 4 May 2016, 8:55 a.m.

Comment on list classification: Promoted from amber to green due to agreement from 2 reviewers, and it is a confirmed DD gene for Refsum disease (mentioned in the reviewer's comments).
Created: 4 May 2016, 8:54 a.m.

Created: 4 May 2016, 8:54 a.m.

Panel version: 0.36

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Refsums
Created: 9 Dec 2015, 8:49 a.m.

Created: 9 Dec 2015, 8:49 a.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Refsums
Created: 8 Dec 2015, 3:05 p.m.

Created: 8 Dec 2015, 3:05 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
London North GLH
Expert Review Green
UKGTN
Emory Genetics Laboratory

Phenotypes

Hereditary Neuropathies
Refsum disease

OMIM

601757

Clinvar variants

Variants in PEX7

Penetrance

Complete

Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PEX7.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PEX7. Rating Changed from Green List (high evidence) to Green List (high evidence)

4 May 2016, Gel status: 4