Genomics England
GMS Panels
Panels
Genes and Entities

PEX19

peroxisomal biogenesis factor 19
OMIM: 600279
PanelMode of inheritanceDetails
8 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 12A (Zellweger), 614886
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 12A (Zellweger) 614886
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME 214100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14
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
Peroxisome biogenesis disorder 12A (Zellweger), 614886, ZELLWEGER SYNDROME (ZWS)
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
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 12A (Zellweger)
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 12A (Zellweger), 614886