Hereditary neuropathy or pain disorder
Gene: CPOXThe mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:16 a.m. | Last Modified: 1 Feb 2023, 10:16 a.m.
Panel Version: 2.18
MOI should be changed from "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as Biallelic variants also cause disease.Created: 26 Oct 2021, 10:42 a.m. | Last Modified: 26 Oct 2021, 10:42 a.m.
Panel Version: 1.64
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 implicationsCreated: 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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
Tag Q4_21_MOI was removed from gene: CPOX.
Mode of inheritance for gene CPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q4_21_MOI tag was added to gene: CPOX.
Gene: cpox has been classified as Green List (High Evidence).
Gene: cpox has been classified as Amber List (Moderate Evidence).
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