Genomics England
GMS Panels
Panels
Genes and Entities

PEX13

peroxisomal biogenesis factor 13
OMIM: 601789
PanelMode of inheritanceDetails
9 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 11A (Zellweger), 614883, Peroxisome biogenesis disorder 11B, 614885
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 11A (Zellweger)
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 11A (Zellweger), Adrenoleukodystrophy neonatal, Peroxisome biogenesis disorder
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 601789, ADRENOLEUKODYSTROPHY NEONATAL 202370
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADRENOLEUKODYSTROPHY NEONATAL, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13
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 11A (Zellweger), 614883Peroxisome biogenesis disorder 11B, 614885, ADRENOLEUKODYSTROPHY NEONATAL (NALD)
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 11A (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 11A (Zellweger),614883
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome, Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11B