Hereditary neuropathy
Gene: PPOX
Comment on mode of inheritance: There are at least three cases of variegate porphyria reported with biallelic variants in PPOX gene and sensory neuropathy. Hence, the MOI should be updated from "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal".Created: 27 Jul 2023, 2:44 p.m. | Last Modified: 27 Jul 2023, 4:11 p.m.
Panel Version: 1.469
PMID:8290408 - The first of the two cases from South Africa (female proband) with "homozygous" variegate porphyria had developed gross sensory neuropathy of the hands and feet.
PMID:10870850 - One of the two South African probands reported with variegate porphyria and biallelic variants (p.Arg59Trp & p.Tyr348Cys) had sensory neuropathy as one of the clinical presentations.
PMID:11286631 - The patient reported with biallelic variants (p.Ile12Thr & p.Pro256Arg) had mild sensory neuropathy.Created: 27 Jul 2023, 2:41 p.m. | Last Modified: 27 Jul 2023, 2:41 p.m.
Panel Version: 1.466
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Porphyria variegata, OMIM:176200; Sensory neuropathy, HP:0000763
Publications
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. Acute episodes similar to AIP.
Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_23_MOI was removed from gene: PPOX.
Tag Q3_23_MOI tag was added to gene: PPOX.
Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPOX were set to 8290408; 10870850; 11286631
Publications for gene: PPOX were set to
Source Expert Review Green was added to PPOX. Rating Changed from Red List (low evidence) to Green List (high evidence)
Phenotypes for gene: PPOX were changed from to Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP
Mode of inheritance for gene: PPOX was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source NHS GMS was added to PPOX.
gene: PPOX was added gene: PPOX was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: PPOX was set to