Hereditary neuropathy
Gene: CPOXMOI 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: 1.417
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
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
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 was removed from gene: CPOX.
Tag Q4_21_MOI tag was added to gene: CPOX.
Source Expert Review Green was added to CPOX. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene: CPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CPOX were changed from to Coproporphyria, 121300; Harderoporphyria, 121300; Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
Mode of inheritance for gene: CPOX was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to CPOX.
gene: CPOX was added gene: CPOX was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: CPOX was set to