Genomics England

PEX6

peroxisomal biogenesis factor 6

Panel	Mode of inheritance	Details
Filter panels14 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 4B, 614863, Peroxisome biogenesis disorder 4A (Zellweger), 614862
Green in Amelogenesis imperfecta R-numbers: R340 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta), Peroxisome biogenesis disorder 4A (Zellweger), 614862, Peroxisome biogenesis disorder 4B, 614863
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Heimler syndrome 2, OMIM:616617, Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862, Peroxisome biogenesis disorder 4B, OMIM:614863
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 4B, OMIM:614863
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Heimler syndrome 2, OMIM:616617
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) 614862
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Heimler syndrome 2, OMIM:616617, Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862, Peroxisome biogenesis disorder 4B, OMIM:614863
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Heimler syndrome 2, OMIM:616617, Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862, Peroxisome biogenesis disorder 4B, OMIM:614863
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 6.7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862, Peroxisome biogenesis disorder 4B, OMIM:614863
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862, Peroxisome biogenesis disorder 4B, OMIM:614863
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 6.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862, peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930, Peroxisome biogenesis disorder 4B OMIM:614863, peroxisome biogenesis disorder 4B MONDO:0013931
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 6.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862, Peroxisome biogenesis disorder 4B, OMIM:614863
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Heimler syndrome 2, OMIM:616617, MONDO:0014709, Peroxisome biogenesis disorder 4B, OMIM:614863
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862, Peroxisome biogenesis disorder 4B, OMIM:614863