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Hereditary neuropathy NOT PMP22 copy number

Gene: CPOX

Green List (high evidence)

CPOX (coproporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000080819
EnsemblGeneIds (GRCh37): ENSG00000080819
OMIM: 612732, Gene2Phenotype
CPOX is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - porphyria, can present similar to AIP according to Alex Rossor. Promote to Green as management implications
Created: 6 Dec 2019, 3:33 p.m. | Last Modified: 6 Dec 2019, 8:47 p.m.
Panel Version: 0.73
Comment on list classification: 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 https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 3:17 p.m. | Last Modified: 6 Dec 2019, 3:17 p.m.
Panel Version: 0.42
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Coproporphyria, 121300
  • Harderoporphyria, 121300
  • Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
OMIM
612732
Clinvar variants
Variants in CPOX
Penetrance
None
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cpox has been classified as Green List (High Evidence).

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CPOX was added gene: CPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CPOX were set to Coproporphyria, 121300; Harderoporphyria, 121300; Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP