Genomics England

PEX26

peroxisomal biogenesis factor 26

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 7B, 614873, Peroxisome biogenesis disorder 7A (Zellweger), 614872
Green in Amelogenesis imperfecta R-numbers: R340 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Amelogenesis Imperfecta, MONDO:0019507, Heimler syndrome
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 7A (Zellweger) 614872
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Adrenoleukodystrophy neonatal, Peroxisome biogenesis disorder 7A (Zellweger), Refsum disease infantile, Peroxisome biogenesis disorder
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 7A (Zellweger)614872
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ZELLWEGER SYNDROME 214100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8 608666, ADRENOLEUKODYSTROPHY NEONATAL 202370, INFANTILE REFSUM DISEASE 266510
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8, ADRENOLEUKODYSTROPHY NEONATAL, ZELLWEGER SYNDROME, INFANTILE REFSUM DISEASE
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872Peroxisome biogenesis disorder 7B, 614873, INFANTILE REFSUM DISEASE (IRD)
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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 7A (Zellweger) 61487, Peroxisome biogenesis disorder 7B 614873
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 7A (Zellweger), 61487, Peroxisome biogenesis disorder 7B, 614873
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome