PEX19

peroxisomal biogenesis factor 19
OMIM: 600279
PanelMode of inheritanceDetails
8 panels
R-numbers: R62
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 12A (Zellweger), 614886
R-numbers: R83
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 12A (Zellweger) 614886
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME 214100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14
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 12A (Zellweger), 614886, 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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 12A (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 12A (Zellweger), 614886