Genomics England

PEX16

peroxisomal biogenesis factor 16

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 8A (Zellweger), 614876, Peroxisome biogenesis disorder 8B, 614877
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) 614876
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), Peroxisome biogenesis disorder
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ZELLWEGER SYNDROME 214100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9, ZELLWEGER SYNDROME
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis, Peroxisome biogenesis disorder 8B, 614877, Peroxisome biogenesis disorder 8A, 614876
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876Peroxisome biogenesis disorder 8B, 614877, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 (PBD-CG9)
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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of peroxisome biogenesis, Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, Peroxisome biogenesis disorder 8A, (Zellweger), 614876, Peroxisomal biogenesis disorders, Zellweger Syndrome
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 8A, (Zellweger), 614876, Zellweger Syndrome, Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, Peroxisomal biogenesis disorders
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome, Peroxisome biogenesis disorder 8A, (Zellweger), Peroxisome biogenesis disorder 8B, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9