PEX6

peroxisomal biogenesis factor 6
OMIM: 601498
PanelMode of inheritanceDetails
13 panels
R-numbers: R340
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta), Peroxisome biogenesis disorder 4A (Zellweger), 614862, Peroxisome biogenesis disorder 4B, 614863
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger) 614862
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger), Confirmed DD gene for ZELLWEGER SYNDROME, Peroxisome biogenesis disorder
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger) 614862
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME 214100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 601498
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4, ZELLWEGER SYNDROME
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4A, 614862, Peroxisome biogenesis disorder 4B, 614863
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862, peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930, Peroxisome biogenesis disorder 4B OMIM:614863, peroxisome biogenesis disorder 4B MONDO:0013931
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger), 614862Peroxisome biogenesis disorder 4B, 614863, ZELLWEGER SYNDROME (ZWS)
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 4A (Zellweger), 614862, Peroxisome biogenesis disorder 4B, 614863
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heimler syndrome 2, OMIM:616617, MONDO:0014709
R-numbers: R62
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4B, 614863, Peroxisome biogenesis disorder 4A (Zellweger), 614862
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4B 614863, Peroxisome biogenesis disorder 4A (Zellweger) 614862