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Intellectual disability v9.301 PPOX Arina Puzriakova Tag Q3_25_promote_green was removed from gene: PPOX.
Intellectual disability v9.299 PPOX Arina Puzriakova reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v9.298 PPOX Arina Puzriakova Source NHS GMS was added to PPOX.
Source Expert Review Green was added to PPOX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v9.128 PPOX Arina Puzriakova Publications for gene: PPOX were set to 8290408; 9811936; 2004012; 35164799; 37879139; 40114189
Intellectual disability v9.126 PPOX Arina Puzriakova Mode of inheritance for gene: PPOX was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v9.125 PPOX Arina Puzriakova Phenotypes for gene: PPOX were changed from Porphyria variegata, 176200 to Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, MONDO:0008297
Intellectual disability v9.124 PPOX Arina Puzriakova Publications for gene: PPOX were set to
Intellectual disability v9.123 PPOX Arina Puzriakova Classified gene: PPOX as Amber List (moderate evidence)
Intellectual disability v9.123 PPOX Arina Puzriakova Gene: ppox has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.122 PPOX Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PPOX.
Intellectual disability v9.117 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. Hence, the mode of inheritance should be set to 'BIALLELIC, autosomal or pseudoautosomal'.; 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. Hence, the mode of inheritance should be set to 'BIALLELIC, autosomal or pseudoautosomal' for Intellectual disability.
Intellectual disability v9.117 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. Hence, the mode of inheritance should be set to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'.; 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. Hence, the mode of inheritance should be set to 'BIALLELIC, autosomal or pseudoautosomal'.
Intellectual disability v9.117 PPOX Ida Ertmanska edited their review of gene: PPOX: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v9.116 PPOX Ida Ertmanska changed review comment from: Comment on list classification: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with 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: nystagmus, epileptic seizures, developmental delay, intellectual disability, and sensory neuropathy. As reviewed by Sharon Whatley, there are more than 3 unrelated individuals with Variegate Porphyria with biallelic variants in PPOX, who presented with developmental delay / childhood-onset intellectual disability: delayed motor skill acquisition, lack of speech acquisition, aggressivity, and other learning disabilities (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189).
PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 7th October 2025.
Based on the available evidence, this gene should be rated Green for Intellectual disability.; to: Comment on list classification: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with 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: nystagmus, epileptic seizures, developmental delay, intellectual disability, and sensory neuropathy. As reviewed by Sharon Whatley, there are more than 3 unrelated individuals with Variegate Porphyria with biallelic variants in PPOX, who presented with severe developmental delay / childhood-onset intellectual disability: delayed motor skill acquisition, lack of speech acquisition, aggressivity, and other learning disabilities (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189).
PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 7th October 2025.
Based on the available evidence, this gene should be rated Green for Intellectual disability.
Intellectual disability v9.116 PPOX Ida Ertmanska commented on gene: PPOX: 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. Hence, the mode of inheritance should be set to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'.
Intellectual disability v9.116 PPOX Ida Ertmanska changed review comment from: Comment on list classification: Variegate Porphyria symptoms include skin lesions, epileptic seizures, developmental delay, intellectual disability. As reviewed by Sharon Whatley, there are more than 3 unrelated individuals with Variegate Porphyria with biallelic variants in PPOX, who presented with developmental delay / childhood-onset intellectual disability, including: delayed motor skill acquisition, lack of speech acquisition, aggressivity, and other learning disabilities (PMIDs: 6143163; 8290408; 9811936; 2004012; 35164799; 37879139; 40114189).
Both monoallelic and biallelic variants are known to cause Variegate Porphyria; biallelic cases present with a more severe, earlier-onset phenotype than monoallelic. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 7th October 2025.
Based on the available evidence, this gene should be rated Green for Intellectual disability.; to: Comment on list classification: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with 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: nystagmus, epileptic seizures, developmental delay, intellectual disability, and sensory neuropathy. As reviewed by Sharon Whatley, there are more than 3 unrelated individuals with Variegate Porphyria with biallelic variants in PPOX, who presented with developmental delay / childhood-onset intellectual disability: delayed motor skill acquisition, lack of speech acquisition, aggressivity, and other learning disabilities (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189).
PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 7th October 2025.
Based on the available evidence, this gene should be rated Green for Intellectual disability.
Intellectual disability v9.116 PPOX Ida Ertmanska edited their review of gene: PPOX: Changed publications to: 8290408, 9811936, 2004012, 35164799, 37879139, 40114189
Intellectual disability v9.116 PPOX Ida Ertmanska changed review comment from: Comment on list classification: Variegate Porphyria symptoms include skin lesions, epileptic seizures, developmental delay, intellectual disability. As reviewed by Sharon Whatley, there are more than 3 unrelated individuals with Variegate Porphyria with biallelic variants in PPOX, who presented with developmental delay / childhood-onset intellectual disability, including: delayed motor skill acquisition, lack of speech acquisition, aggressivity, and other learning disabilities (PMIDs: 6143163;8290408;9811936;2004012;35164799;37879139;40114189).
Both monoallelic and biallelic variants are known to cause Variegate Porphyria; biallelic cases present with a more severe, earlier-onset phenotype than monoallelic. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 7th October 2025.
Based on the available evidence, this gene should be rated Green for Intellectual disability.; to: Comment on list classification: Variegate Porphyria symptoms include skin lesions, epileptic seizures, developmental delay, intellectual disability. As reviewed by Sharon Whatley, there are more than 3 unrelated individuals with Variegate Porphyria with biallelic variants in PPOX, who presented with developmental delay / childhood-onset intellectual disability, including: delayed motor skill acquisition, lack of speech acquisition, aggressivity, and other learning disabilities (PMIDs: 6143163; 8290408; 9811936; 2004012; 35164799; 37879139; 40114189).
Both monoallelic and biallelic variants are known to cause Variegate Porphyria; biallelic cases present with a more severe, earlier-onset phenotype than monoallelic. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 7th October 2025.
Based on the available evidence, this gene should be rated Green for Intellectual disability.
Intellectual disability v9.115 PPOX Ida Ertmanska changed review comment from: Variegate Porphyria symptoms include skin lesions, epileptic seizures, developmental delay, intellectual disability. As reviewed by Sharon Whatley, there are more than 3 unrelated individuals with Variegate Porphyria with biallelic variants in PPOX, who presented with developmental delay / childhood-onset intellectual disability, including: delayed motor skill acquisition, lack of speech acquisition, aggressivity, and other learning disabilities (PMIDs: 6143163;8290408;9811936;2004012;35164799;37879139;40114189).
Both monoallelic and biallelic variants are known to cause Variegate Porphyria; biallelic cases present with a more severe, earlier-onset phenotype than monoallelic. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 7th October 2025.
Based on the available evidence, this gene should be rated Green for Intellectual disability.; to: Comment on list classification: Variegate Porphyria symptoms include skin lesions, epileptic seizures, developmental delay, intellectual disability. As reviewed by Sharon Whatley, there are more than 3 unrelated individuals with Variegate Porphyria with biallelic variants in PPOX, who presented with developmental delay / childhood-onset intellectual disability, including: delayed motor skill acquisition, lack of speech acquisition, aggressivity, and other learning disabilities (PMIDs: 6143163;8290408;9811936;2004012;35164799;37879139;40114189).
Both monoallelic and biallelic variants are known to cause Variegate Porphyria; biallelic cases present with a more severe, earlier-onset phenotype than monoallelic. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 7th October 2025.
Based on the available evidence, this gene should be rated Green for Intellectual disability.
Intellectual disability v9.115 PPOX Ida Ertmanska reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 6143163, 8290408, 9811936, 2004012, 35164799, 37879139, 40114189; Phenotypes: Variegate porphyria, childhood-onset, 620483, variegate porphyria, MONDO:0008297; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability v9.72 PPOX Sharon Whatley reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 37879139,40114189, 33159949, 35164799, 9811936, 8290408, 2004012, 6143163; Phenotypes: 620483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.468 PPOX Louise Daugherty Source Victorian Clinical Genetics Services was added to PPOX.