PEX5

peroxisomal biogenesis factor 5
OMIM: 600414
PanelMode of inheritanceDetails
10 panels
R-numbers: R62
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 2B, 202370, Peroxisome biogenesis disorder 2A (Zellweger), 214110
R-numbers: R83
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger) 214110
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B, Rhizomelic chondrodysplasia punctata, type 5
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME 214100, ADRENOLEUKODYSTROPHY NEONATAL 202370, INFANTILE REFSUM DISEASE 266510
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME, ADRENOLEUKODYSTROPHY NEONATAL, INFANTILE REFSUM DISEASE
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger), 214110Peroxisome biogenesis disorder 2B, 202370, ADRENOLEUKODYSTROPHY NEONATAL (NALD)
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 2A (Zellweger)
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 2A (Zellweger), 214110, Peroxisome biogenesis disorder 2B, 202370
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger) 214110, Rhizomelic chondrodysplasia punctata, type 5 616716
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger)