Genomics England

PPOX

protoporphyrinogen oxidase

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Cutaneous photosensitivity with a likely genetic cause R-numbers: R237 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Porphyria variegata 176200, Variegate porphyria (Acute neuropathic porphyrias)
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, childhood-onset, MONDO:0957577
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, childhood-onset, MONDO:0957577
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, MONDO:0008297
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Variegate porphyria, OMIM:176200, Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, MONDO:0008297, variegate porphyria, childhood-onset, MONDO:0957577
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 10.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Variegate porphyria, OMIM:176200, Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, MONDO:0008297, variegate porphyria, childhood-onset, MONDO:0957577
Green in Non-acute porphyrias R-numbers: R168 Signed-off version 1.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Variegate porphyria (Acute neuropathic porphyrias), Porphyria variegata 176200
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Variegate porphyria, OMIM:176200, Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, MONDO:0008297, variegate porphyria, childhood-onset, MONDO:0957577
Green in Variegate porphyria R-numbers: R170 Signed-off version 1.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes