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| Early onset or syndromic epilepsy v8.139 | PPOX | Arina Puzriakova Tag Q3_25_promote_green was removed from gene: PPOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.134 | PPOX | Achchuthan Shanmugasundram reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.134 | 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) |
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| Early onset or syndromic epilepsy v8.54 | PPOX | Arina Puzriakova Phenotypes for gene: PPOX were changed from Variegate porphyria, OMIM:176200; Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, MONDO:0008297; variegate porphyria, childhood-onset, MONDO:0957577 to Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, childhood-onset, MONDO:0957577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.53 | PPOX |
Ida Ertmanska changed review comment from: 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 (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189). PMID: 8290408 Hift et al., 1993 Male infant with Blistering and fragility of the skin of hands, face and ears; hypertrichosis; hyperpigmentation; scarring and milia; Epilepsy (onset at 5 months of age); developmental delay; nystagmus and clinodactyly. Molecular diagnosis: homozygous for c.1279G>C, p.Ala433Pro - genotyped in PMID: 9811936 Roberts et al., 1998. Variant is rare in gnomAD v4, no homozygotes; Revel score = 0.71. PMID: 30861571 Al-Hage et al., 2019 A 3-year-old girl presented with a history of recurrent blisters over sun-exposed areas from age 6 months; recurrent epileptic episodes from 2 months old; had a delay in speech and motor development; ocular nystagmus. Family members similarly affected. Patient and affected uncle both homozygous for p.Glu339Lys - variant not in gnomAD v4. Method: Exome seq. PMID: 35164799 Vafaee-Shahi et al., 2022 Reported a 7-year-old boy with homozygous PPOX pathogenic variant (c.1072G>A, p.Gly358Arg) - rare in gnomAD v4, method: WES. He was admitted with three episodes of generalized tonic-clonic seizure in 6 months. He was presented with lesions, hyperpigmentation, fragility, and blistering of sun-exposed skin; weakness of limbs and brachydactyly, aggressive behaviour, learning disability and abdominal pain were also observed. PMID: 40114189 Kaiser et al., 2025 Patient 1, female, 7yo. Presented with neonatal hepatopathy and cutaneous lesions caused by light exposure; other symptoms include: nystagmus, global developmental delay, short stature, microcephaly, intellectual disability. She developed epileptic seizures, mainly bilateral tonic seizures with eye blinking, at the age of 3 months - treated with a combination of valproic acid and phenobarbital. Patient 2 - similarly affected brother, 14yo - generalized epileptic seizures were reported before the age of 6 months; seizure-free with valproic acid treatment. Both siblings homozygous for PPOX variant c.164A > C (p.Glu55Ala) - not in gnomAD v4, Revel score = 0.94. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025.; to: 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 (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189). PMID: 8290408 Hift et al., 1993 Male infant with Blistering and fragility of the skin of hands, face and ears; hypertrichosis; hyperpigmentation; scarring and milia; Epilepsy (onset at 5 months of age); developmental delay; nystagmus and clinodactyly. Molecular diagnosis: homozygous for c.1279G>C, p.Ala433Pro - genotyped in PMID: 9811936 Roberts et al., 1998. Variant is rare in gnomAD v4, no homozygotes; Revel score = 0.71. PMID: 30861571 Al-Hage et al., 2019 A 3-year-old girl presented with a history of recurrent blisters over sun-exposed areas from age 6 months; recurrent epileptic episodes from 2 months old; had a delay in speech and motor development; ocular nystagmus. Family members similarly affected. Patient and affected uncle both homozygous for p.Glu339Lys - variant not in gnomAD v4. Method: Exome seq. PMID: 35164799 Vafaee-Shahi et al., 2022 Reported a 7-year-old boy with homozygous PPOX pathogenic variant (c.1072G>A, p.Gly358Arg) - rare in gnomAD v4, method: WES. He was admitted with three episodes of generalized tonic-clonic seizure in 6 months. He was presented with lesions, hyperpigmentation, fragility, and blistering of sun-exposed skin; weakness of limbs and brachydactyly, aggressive behaviour, learning disability and abdominal pain were also observed. PMID: 40114189 Kaiser et al., 2025 Patient 1, female, 7yo. Presented with neonatal hepatopathy and cutaneous lesions caused by light exposure; other symptoms include: nystagmus, global developmental delay, short stature, microcephaly, intellectual disability. She developed epileptic seizures, mainly bilateral tonic seizures with eye blinking, at the age of 3 months - treated with a combination of valproic acid and phenobarbital. Patient 2 - similarly affected brother, 14yo - generalized epileptic seizures were reported before the age of 6 months; seizure-free with valproic acid treatment. Both siblings homozygous for PPOX variant c.164A > C (p.Glu55Ala) - not in gnomAD v4, Revel score = 0.94. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025. |
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| Early onset or syndromic epilepsy v8.53 | PPOX | Ida Ertmanska edited their review of gene: PPOX: Added comment: Comment on list classification: There are at least 4 unrelated individuals with biallelic variants in PPOX that presented with early onset (2-6 months after birth), syndromic epilepsy. Based on the available evidence, this gene should be rated Green for Early onset or syndromic epilepsy. The mode of inheritance should be set to BIALLELIC, autosomal or pseudoautosomal.; Changed publications to: 8290408, 9811936, 2004012, 30861571, 35164799, 37879139, 40114189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.53 | 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 (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189). PMID: 8290408 Hift et al., 1993 Male infant with Blistering and fragility of the skin of hands, face and ears; hypertrichosis; hyperpigmentation; scarring and milia; Epilepsy (onset at 5 months of age); developmental delay; nystagmus and clinodactyly. Molecular diagnosis: homozygous for c.1279G>C, p.Ala433Pro - genotyped in PMID: 9811936 Roberts et al., 1998. Variant is rare in gnomAD v4, no homozygotes; Revel score = 0.71. PMID: 30861571 Al-Hage et al., 2019 A 3-year-old girl presented with a history of recurrent blisters over sun-exposed areas from age 6 months; recurrent epileptic episodes from 2 months old; had a delay in speech and motor development; ocular nystagmus. Family members similarly affected. Patient and affected uncle both homozygous for p.Glu339Lys - variant not in gnomAD v4. Method: Exome seq. PMID: 35164799 Vafaee-Shahi et al., 2022 Reported a 7-year-old boy with homozygous PPOX pathogenic variant (c.1072G>A, p.Gly358Arg) - rare in gnomAD v4, method: WES. He was admitted with three episodes of generalized tonic-clonic seizure in 6 months. He was presented with lesions, hyperpigmentation, fragility, and blistering of sun-exposed skin; weakness of limbs and brachydactyly, aggressive behaviour, learning disability and abdominal pain were also observed. PMID: 40114189 Kaiser et al., 2025 Patient 1, female, 7yo. Presented with neonatal hepatopathy and cutaneous lesions caused by light exposure; other symptoms include: nystagmus, global developmental delay, short stature, microcephaly, intellectual disability. She developed epileptic seizures, mainly bilateral tonic seizures with eye blinking, at the age of 3 months - treated with a combination of valproic acid and phenobarbital. Patient 2 - similarly affected brother, 14yo - generalized epileptic seizures were reported before the age of 6 months; seizure-free with valproic acid treatment. Both siblings homozygous for PPOX variant c.164A > C (p.Glu55Ala) - not in gnomAD v4, Revel score = 0.94. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025. Based on the available evidence, this gene should be rated Green for Early onset or syndromic epilepsy. The mode of inheritance should be set to BIALLELIC, autosomal or pseudoautosomal.; to: 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 (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189). PMID: 8290408 Hift et al., 1993 Male infant with Blistering and fragility of the skin of hands, face and ears; hypertrichosis; hyperpigmentation; scarring and milia; Epilepsy (onset at 5 months of age); developmental delay; nystagmus and clinodactyly. Molecular diagnosis: homozygous for c.1279G>C, p.Ala433Pro - genotyped in PMID: 9811936 Roberts et al., 1998. Variant is rare in gnomAD v4, no homozygotes; Revel score = 0.71. PMID: 30861571 Al-Hage et al., 2019 A 3-year-old girl presented with a history of recurrent blisters over sun-exposed areas from age 6 months; recurrent epileptic episodes from 2 months old; had a delay in speech and motor development; ocular nystagmus. Family members similarly affected. Patient and affected uncle both homozygous for p.Glu339Lys - variant not in gnomAD v4. Method: Exome seq. PMID: 35164799 Vafaee-Shahi et al., 2022 Reported a 7-year-old boy with homozygous PPOX pathogenic variant (c.1072G>A, p.Gly358Arg) - rare in gnomAD v4, method: WES. He was admitted with three episodes of generalized tonic-clonic seizure in 6 months. He was presented with lesions, hyperpigmentation, fragility, and blistering of sun-exposed skin; weakness of limbs and brachydactyly, aggressive behaviour, learning disability and abdominal pain were also observed. PMID: 40114189 Kaiser et al., 2025 Patient 1, female, 7yo. Presented with neonatal hepatopathy and cutaneous lesions caused by light exposure; other symptoms include: nystagmus, global developmental delay, short stature, microcephaly, intellectual disability. She developed epileptic seizures, mainly bilateral tonic seizures with eye blinking, at the age of 3 months - treated with a combination of valproic acid and phenobarbital. Patient 2 - similarly affected brother, 14yo - generalized epileptic seizures were reported before the age of 6 months; seizure-free with valproic acid treatment. Both siblings homozygous for PPOX variant c.164A > C (p.Glu55Ala) - not in gnomAD v4, Revel score = 0.94. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025. |
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| Early onset or syndromic epilepsy v8.53 | 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 (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189). PMID: 8290408 Hift et al., 1993 Male infant with Blistering and fragility of the skin of hands, face and ears; hypertrichosis; hyperpigmentation; scarring and milia; Epilepsy (onset at 5 months of age); developmental delay; nystagmus and clinodactyly. Molecular diagnosis: homozygous for c.1279G>C, p.Ala433Pro - genotyped in PMID: 9811936 Roberts et al., 1998. Variant is rare in gnomAD v4, no homozygotes; Revel score = 0.71. PMID: 30861571 Al-Hage et al., 2019 A 3-year-old girl presented with a history of recurrent blisters over sun-exposed areas from age 6 months; recurrent epileptic episodes from 2 months old; had a delay in speech and motor development; ocular nystagmus. Family members similarly affected. Patient and affected uncle both homozygous for p.Glu339Lys - variant not in gnomAD v4. Method: Exome seq. PMID: 35164799 Vafaee-Shahi et al., 2022 Reported a 7-year-old boy with homozygous PPOX pathogenic variant (c.1072G>A, p.Gly358Arg) - rare in gnomAD v4, method: WES. He was admitted with three episodes of generalized tonic-clonic seizure in 6 months. He was presented with lesions, hyperpigmentation, fragility, and blistering of sun-exposed skin; weakness of limbs and brachydactyly, aggressive behaviour, learning disability and abdominal pain were also observed. PMID: 40114189 Kaiser et al., 2025 2 siblings with Patient 1, female, 7yo. Presented with neonatal hepatopathy and cutaneous lesions caused by light exposure; other symptoms include: nystagmus, global developmental delay, short stature, microcephaly, intellectual disability. She developed epileptic seizures, mainly bilateral tonic seizures with eye blinking, at the age of 3 months - treated with a combination of valproic acid and phenobarbital. Patient 2 - similarly affected brother, 14yo - generalized epileptic seizures were reported before the age of 6 months; seizure-free with valproic acid treatment. Both siblings homozygous for PPOX variant c.164A > C (p.Glu55Ala) - not in gnomAD v4, Revel score = 0.94. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025. Based on the available evidence, this gene should be rated Green for Early onset or syndromic epilepsy. The mode of inheritance should be set to BIALLELIC, autosomal or pseudoautosomal.; 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 (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189). PMID: 8290408 Hift et al., 1993 Male infant with Blistering and fragility of the skin of hands, face and ears; hypertrichosis; hyperpigmentation; scarring and milia; Epilepsy (onset at 5 months of age); developmental delay; nystagmus and clinodactyly. Molecular diagnosis: homozygous for c.1279G>C, p.Ala433Pro - genotyped in PMID: 9811936 Roberts et al., 1998. Variant is rare in gnomAD v4, no homozygotes; Revel score = 0.71. PMID: 30861571 Al-Hage et al., 2019 A 3-year-old girl presented with a history of recurrent blisters over sun-exposed areas from age 6 months; recurrent epileptic episodes from 2 months old; had a delay in speech and motor development; ocular nystagmus. Family members similarly affected. Patient and affected uncle both homozygous for p.Glu339Lys - variant not in gnomAD v4. Method: Exome seq. PMID: 35164799 Vafaee-Shahi et al., 2022 Reported a 7-year-old boy with homozygous PPOX pathogenic variant (c.1072G>A, p.Gly358Arg) - rare in gnomAD v4, method: WES. He was admitted with three episodes of generalized tonic-clonic seizure in 6 months. He was presented with lesions, hyperpigmentation, fragility, and blistering of sun-exposed skin; weakness of limbs and brachydactyly, aggressive behaviour, learning disability and abdominal pain were also observed. PMID: 40114189 Kaiser et al., 2025 Patient 1, female, 7yo. Presented with neonatal hepatopathy and cutaneous lesions caused by light exposure; other symptoms include: nystagmus, global developmental delay, short stature, microcephaly, intellectual disability. She developed epileptic seizures, mainly bilateral tonic seizures with eye blinking, at the age of 3 months - treated with a combination of valproic acid and phenobarbital. Patient 2 - similarly affected brother, 14yo - generalized epileptic seizures were reported before the age of 6 months; seizure-free with valproic acid treatment. Both siblings homozygous for PPOX variant c.164A > C (p.Glu55Ala) - not in gnomAD v4, Revel score = 0.94. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025. Based on the available evidence, this gene should be rated Green for Early onset or syndromic epilepsy. The mode of inheritance should be set to BIALLELIC, autosomal or pseudoautosomal. |
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| Early onset or syndromic epilepsy v8.53 | 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 (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 13th October 2025. Based on the available evidence, this gene should be rated Green for Early onset or syndromic epilepsy. The mode of inheritance should be set to BIALLELIC, autosomal or pseudoautosomal.; 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 (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189). PMID: 8290408 Hift et al., 1993 Male infant with Blistering and fragility of the skin of hands, face and ears; hypertrichosis; hyperpigmentation; scarring and milia; Epilepsy (onset at 5 months of age); developmental delay; nystagmus and clinodactyly. Molecular diagnosis: homozygous for c.1279G>C, p.Ala433Pro - genotyped in PMID: 9811936 Roberts et al., 1998. Variant is rare in gnomAD v4, no homozygotes; Revel score = 0.71. PMID: 30861571 Al-Hage et al., 2019 A 3-year-old girl presented with a history of recurrent blisters over sun-exposed areas from age 6 months; recurrent epileptic episodes from 2 months old; had a delay in speech and motor development; ocular nystagmus. Family members similarly affected. Patient and affected uncle both homozygous for p.Glu339Lys - variant not in gnomAD v4. Method: Exome seq. PMID: 35164799 Vafaee-Shahi et al., 2022 Reported a 7-year-old boy with homozygous PPOX pathogenic variant (c.1072G>A, p.Gly358Arg) - rare in gnomAD v4, method: WES. He was admitted with three episodes of generalized tonic-clonic seizure in 6 months. He was presented with lesions, hyperpigmentation, fragility, and blistering of sun-exposed skin; weakness of limbs and brachydactyly, aggressive behaviour, learning disability and abdominal pain were also observed. PMID: 40114189 Kaiser et al., 2025 2 siblings with Patient 1, female, 7yo. Presented with neonatal hepatopathy and cutaneous lesions caused by light exposure; other symptoms include: nystagmus, global developmental delay, short stature, microcephaly, intellectual disability. She developed epileptic seizures, mainly bilateral tonic seizures with eye blinking, at the age of 3 months - treated with a combination of valproic acid and phenobarbital. Patient 2 - similarly affected brother, 14yo - generalized epileptic seizures were reported before the age of 6 months; seizure-free with valproic acid treatment. Both siblings homozygous for PPOX variant c.164A > C (p.Glu55Ala) - not in gnomAD v4, Revel score = 0.94. PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025. Based on the available evidence, this gene should be rated Green for Early onset or syndromic epilepsy. The mode of inheritance should be set to BIALLELIC, autosomal or pseudoautosomal. |
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| Early onset or syndromic epilepsy v8.53 | PPOX | Ida Ertmanska edited their review of gene: PPOX: Changed phenotypes to: Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, childhood-onset, MONDO:0957577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.53 | PPOX | Ida Ertmanska Classified gene: PPOX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.53 | PPOX | Ida Ertmanska Gene: ppox has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.52 | PPOX | Ida Ertmanska Mode of inheritance for gene: PPOX was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.52 | PPOX | Ida Ertmanska Classified gene: PPOX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.52 | PPOX | Ida Ertmanska Gene: ppox has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.51 | PPOX |
Ida Ertmanska Publications for gene: PPOX were updated from to 8290408; 9811936; 2004012; 35164799; 37879139; 40114189 Tag Q3_25_promote_green tag was added to PPOX. |
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| Early onset or syndromic epilepsy v8.50 | PPOX | Ida Ertmanska edited their review of gene: PPOX: Changed publications to: 8290408, 9811936, 2004012, 35164799, 37879139, 40114189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.50 | PPOX |
Ida Ertmanska changed review comment from: Sources: Other; 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 (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 13th October 2025. Based on the available evidence, this gene should be rated Green for Early onset or syndromic epilepsy. The mode of inheritance should be set to BIALLELIC, autosomal or pseudoautosomal. |
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| Early onset or syndromic epilepsy v8.50 | PPOX | Ida Ertmanska edited their review of gene: PPOX: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.50 | PPOX |
Ida Ertmanska gene: PPOX was added gene: PPOX was added to Early onset or syndromic epilepsy. Sources: Other Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: PPOX were set to Variegate porphyria, OMIM:176200; Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, MONDO:0008297; variegate porphyria, childhood-onset, MONDO:0957577 Review for gene: PPOX was set to GREEN Added comment: Sources: Other |
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