Genomics England

PEX1

peroxisomal biogenesis factor 1

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
Green in Amelogenesis imperfecta R-numbers: R340 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta), hypomineralized amelogenesis imperfecta, amelogenesis imperfecta, Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539, Peroxisome biogenesis disorder 1A (Zellweger), 214100
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) 214100
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), Refsum disease infantile, Adrenoleukodystrophy neonatal, Peroxisome biogenesis disorder
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome Biogenesis Disorder 1A (Zellweger), 214100, Zellweger syndrome, Neonatal and Adult Cholestasis
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136, ADRENOLEUKODYSTROPHY NEONATAL 202370, INFANTILE REFSUM DISEASE 266510
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ADRENOLEUKODYSTROPHY NEONATAL, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1, INFANTILE REFSUM DISEASE
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), 214100Peroxisome biogenesis disorder 1B (NALD/IRD), 601539, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 (PBD-CG1)
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 1B (NALD/IRD) 601539, Peroxisome biogenesis disorder 1A (Zellweger) 214100
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 4.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 1A (Zellweger), 214100, Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
Green in Retinal disorders R-numbers: R32 Signed-off version 4.42	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Genetic Retinal Degeneration Conditions
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome, Peroxisome biogenesis disorder 1A,B, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Peroxisome biogenesis disorder 1A (Zellweger)