Genomics England

PEX10

peroxisomal biogenesis factor 10

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 6B, 614871
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) 614870
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ZELLWEGER SYNDROME 214100, ADRENOLEUKODYSTROPHY NEONATAL 202370, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ADRENOLEUKODYSTROPHY NEONATAL, ZELLWEGER SYNDROME, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870, Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described, Peroxisome biogenesis disorder 6B, 614871
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870Peroxisome biogenesis disorder 6B, 614871, ADRENOLEUKODYSTROPHY NEONATAL (NALD)
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 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 6A (Zellweger) 614870, Peroxisome biogenesis disorder 6B 614871
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 6A (Zellweger), 614870, Peroxisome biogenesis disorder 6B, 614871
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome, ZELLWEGER SYNDROME, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7