Genomics England

PEX7

peroxisomal biogenesis factor 7

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 9B, 614879
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rhizomelic chondrodysplasia punctata, type 1 215100
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisome biogenesis disorder 9B, OMIM:614879, Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes REFSUM DISEASE 266500, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 215100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 601757
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1, REFSUM DISEASE
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 Rhizomelic chondrodysplasia punctata, type 1, 215100, Peroxisome biogenesis disorder 9B, 614879, REFSUM DISEASE (RD)
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 9B 614879, Rhizomelic chondrodysplasia punctata, type 1, Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Refsum disease
Green in Retinal disorders R-numbers: R32 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders, Refsum disease
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100, Rhizomelic CDP type 1, Rhizomelic chondrodysplasia punctata, type 1, 215100