Genomics England

PEX11B

peroxisomal biogenesis factor 11 beta

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Peroxisome biogenesis disorder 14B, 614920
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 14B 614920
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 14B
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 14B
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 14B, 614920, Intellectual disability
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 Peroxisome biogenesis disorder 14B
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 14B, 614920