PEX10

peroxisomal biogenesis factor 10
OMIM: 602859
PanelMode of inheritanceDetails
9 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 6A (Zellweger) 614870
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME 214100, ADRENOLEUKODYSTROPHY NEONATAL 202370, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADRENOLEUKODYSTROPHY NEONATAL, ZELLWEGER SYNDROME, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
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 6A (Zellweger) 614870, Peroxisome biogenesis disorder 6B 614871
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 6A (Zellweger), 614870Peroxisome biogenesis disorder 6B, 614871, 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 6A (Zellweger), 614870, Peroxisome biogenesis disorder 6B, 614871
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 6B, 614871
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, ZELLWEGER SYNDROME, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7