PEX12

peroxisomal biogenesis factor 12
OMIM: 601758
PanelMode of inheritanceDetails
10 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 3A (Zellweger) 614859
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 3A (Zellweger), PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3, Peroxisome biogenesis disorder
Green
in Cholestasis
R-numbers: R171
Signed-off version 1.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 3B 266510, Peroxisome biogenesis disorder 3A (Zellweger) 614859
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME 214100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 601758
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3
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 3A (Zellweger), 614859, Peroxisome biogenesis disorder 3B
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 3A (Zellweger), 614859Peroxisome biogenesis disorder 3B, 266510, ZELLWEGER SYNDROME (ZWS)
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 3A (Zellweger), 614859, Peroxisome biogenesis disorder 3B, 266510
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 3A, 614859, Peroxisome biogenesis disorder 3B, 266510
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 3A (Zellweger), General Leukodystrophy & Mitochondrial Leukoencephalopathy, Peroxisome biogenesis disorder 3B, Peroxisome biogenesis disorder 3A,B