PEX2

peroxisomal biogenesis factor 2
OMIM: 170993
PanelMode of inheritanceDetails
10 panels
R-numbers: R62
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 5A (Zellweger) 614866, Peroxisome biogenesis disorder 5B, 614867
R-numbers: R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 5A (Zellweger) 614866
R-numbers: R31
Signed-off version 4.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 5A, (Zellweger), Zellweger sydrome, Peroxisome biogenesis disorder
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME 214100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 170993, INFANTILE REFSUM DISEASE 266510
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5, ZELLWEGER SYNDROME, INFANTILE REFSUM DISEASE
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 5A (Zellweger), 614866Peroxisome biogenesis disorder 5B, 614867, ZELLWEGER SYNDROME (ZWS)
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 5A (Zellweger), 614866, Peroxisome biogenesis disorder 5B, 614867
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 5A (Zellweger), 614866, Peroxisome biogenesis disorder 5B, 614867
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic Retinal Degeneration Conditions
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 5A (Zellweger)