Genomics England

PEX7

peroxisomal biogenesis factor 7

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 9B, 614879
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.0	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 6.0	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 5.0	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 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1, REFSUM DISEASE
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hereditary Neuropathies, Refsum disease
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 Rhizomelic chondrodysplasia punctata, type 1, 215100, Peroxisome biogenesis disorder 9B, 614879, REFSUM DISEASE (RD)
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 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 7.0	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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100, Rhizomelic CDP type 1, Rhizomelic chondrodysplasia punctata, type 1, 215100