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Hereditary neuropathy or pain disorder v7.20 PPOX Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 13 October 2025.
Hereditary neuropathy or pain disorder v7.20 PPOX Achchuthan Shanmugasundram Phenotypes for gene: PPOX were changed from Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, childhood-onset, MONDO:0957577 to Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, childhood-onset, MONDO:0957577
Hereditary neuropathy or pain disorder v7.19 PPOX Achchuthan Shanmugasundram Phenotypes for gene: PPOX were changed from Porphyria variegata, OMIM:176200; Sensory neuropathy, HP:0000763 to Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, childhood-onset, MONDO:0957577
Hereditary neuropathy or pain disorder v7.18 PPOX Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: PPOX.
Hereditary neuropathy or pain disorder v7.18 PPOX Ida Ertmanska changed review comment from: Comment on mode of inheritance: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with disease onset in adolescence or adulthood. Biallelic variants are known to cause Variegate Porphyria with a more severe, early-onset phenotype - skin lesions, along with neurologic and/ or neurodevelopmental symptoms - including neuropathy. As reported by previous reviewers, 3 individuals with biallelic variants in PPOX presented with sensory neuropathy (PMID: 11286631 Kauppinen, 10870850 Corrigall, 8290408 Hift). Hence, the mode of inheritance should be set to 'BIALLELIC, autosomal or pseudoautosomal' for Hereditary neuropathy or pain disorder.; to: Comment on mode of inheritance: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with disease onset in adolescence or adulthood. Biallelic variants are known to cause Variegate Porphyria with a more severe, early-onset phenotype - skin lesions, along with neurologic and/ or neurodevelopmental symptoms - including neuropathy. As reported by previous reviewers, 3 individuals with biallelic variants in PPOX presented with sensory neuropathy (PMID: 11286631 Kauppinen, 10870850 Corrigall, 8290408 Hift). Hence, the mode of inheritance should be set to 'BIALLELIC, autosomal or pseudoautosomal' for Hereditary neuropathy or pain disorder.
Hereditary neuropathy or pain disorder v7.18 PPOX Ida Ertmanska reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 8290408, 10870850, 11286631; Phenotypes: Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, childhood-onset, MONDO:0957577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v7.5 PPOX Sharon Whatley reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38940544, 35584894, 37879139, 11286631, 10870850, 8290408; Phenotypes: 176200, 620483; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.6 PPOX Arina Puzriakova Phenotypes for gene: PPOX were changed from Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP to Porphyria variegata, OMIM:176200; Sensory neuropathy, HP:0000763
Hereditary neuropathy or pain disorder v4.5 PPOX Arina Puzriakova Tag Q3_23_MOI was removed from gene: PPOX.
Hereditary neuropathy or pain disorder v4.3 PPOX Arina Puzriakova reviewed gene: PPOX: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.2 PPOX Arina Puzriakova Mode of inheritance for gene PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v3.37 PPOX Achchuthan Shanmugasundram Publications for gene: PPOX were set to
Hereditary neuropathy or pain disorder v3.36 PPOX Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: 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" in the next GMS review.
Hereditary neuropathy or pain disorder v3.36 PPOX Achchuthan Shanmugasundram Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v3.35 PPOX Achchuthan Shanmugasundram Tag Q3_23_MOI tag was added to gene: PPOX.
Hereditary neuropathy or pain disorder v3.35 PPOX Achchuthan Shanmugasundram reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 8290408, 10870850, 11286631; Phenotypes: Porphyria variegata, OMIM:176200, Sensory neuropathy, HP:0000763; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v0.91 PPOX Louise Daugherty edited their review of gene: PPOX: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.74 PPOX Louise Daugherty commented on gene: PPOX: 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: variegate porphyria. As per CPOX usually presents more acutely but management implications. Promote to Green as management implications
Hereditary neuropathy or pain disorder v0.74 PPOX Louise Daugherty Classified gene: PPOX as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.74 PPOX Louise Daugherty Added comment: 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/.
Hereditary neuropathy or pain disorder v0.74 PPOX Louise Daugherty Gene: ppox has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.1 PPOX Ellen McDonagh gene: PPOX was added
gene: PPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP