Genomics England

PEX5

peroxisomal biogenesis factor 5

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 2B, 202370, Peroxisome biogenesis disorder 2A (Zellweger), 214110
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 2A (Zellweger) 214110
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B, Rhizomelic chondrodysplasia punctata, type 5
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ZELLWEGER SYNDROME 214100, ADRENOLEUKODYSTROPHY NEONATAL 202370, INFANTILE REFSUM DISEASE 266510
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ZELLWEGER SYNDROME, ADRENOLEUKODYSTROPHY NEONATAL, 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 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110Peroxisome biogenesis disorder 2B, 202370, 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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 2A (Zellweger)
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 2A (Zellweger), 214110, Peroxisome biogenesis disorder 2B, 202370
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 2A (Zellweger) 214110, Rhizomelic chondrodysplasia punctata, type 5 616716
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 2A (Zellweger)