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Hereditary neuropathy NOT PMP22 copy number

Gene: PEX7

Amber List (moderate evidence)

PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 25 panels

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see
Created: 6 Dec 2019, 8:25 p.m. | Last Modified: 6 Dec 2019, 8:25 p.m.
Panel Version: 0.63
Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Created: 6 Dec 2019, 8:22 p.m. | Last Modified: 6 Dec 2019, 8:22 p.m.
Panel Version: 0.62
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)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

I don't know

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.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

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

Mary Reilly (Institute of Neurology)

Green List (high evidence)

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

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pex7 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PEX7 was added gene: PEX7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Hereditary Neuropathies; Refsum disease