Genomics England

PEX12

peroxisomal biogenesis factor 12

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 3A, 614859, Peroxisome biogenesis disorder 3B, 266510
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 3A (Zellweger) 614859
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3, Peroxisome biogenesis disorder
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 3B 266510, Peroxisome biogenesis disorder 3A (Zellweger) 614859
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 3 601758
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ZELLWEGER SYNDROME, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3
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 3A (Zellweger), 614859Peroxisome biogenesis disorder 3B, 266510, ZELLWEGER SYNDROME (ZWS)
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 disorder 3A (Zellweger), 614859, Peroxisome biogenesis disorder 3B
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 3A (Zellweger), 614859, Peroxisome biogenesis disorder 3B, 266510
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 3A (Zellweger), General Leukodystrophy & Mitochondrial Leukoencephalopathy, Peroxisome biogenesis disorder 3B, Peroxisome biogenesis disorder 3A,B