PEX10

peroxisomal biogenesis factor 10
OMIM: 602859
PanelMode of inheritanceDetails
9 panels
R-numbers: R62
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 6B, 614871
R-numbers: R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 6A (Zellweger) 614870
R-numbers: R31
Signed-off version 4.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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, ADRENOLEUKODYSTROPHY NEONATAL 202370, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADRENOLEUKODYSTROPHY NEONATAL, ZELLWEGER SYNDROME, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
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 6A (Zellweger), 614870Peroxisome biogenesis disorder 6B, 614871, ADRENOLEUKODYSTROPHY NEONATAL (NALD)
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 6A (Zellweger) 614870, Peroxisome biogenesis disorder 6B 614871
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 6A (Zellweger), 614870, Peroxisome biogenesis disorder 6B, 614871
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome, ZELLWEGER SYNDROME, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7