PEX13

peroxisomal biogenesis factor 13
OMIM: 601789
PanelMode of inheritanceDetails
9 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 11A (Zellweger)
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 601789, ADRENOLEUKODYSTROPHY NEONATAL 202370
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADRENOLEUKODYSTROPHY NEONATAL, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 11A (Zellweger)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 11A (Zellweger), 614883Peroxisome biogenesis disorder 11B, 614885, ADRENOLEUKODYSTROPHY NEONATAL (NALD)
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 11A (Zellweger),614883
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 11A (Zellweger), 614883, Peroxisome biogenesis disorder 11B, 614885
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome, Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11B