PEX16

peroxisomal biogenesis factor 16
OMIM: 603360
PanelMode of inheritanceDetails
11 panels
R-numbers: R62
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 8A (Zellweger), 614876, Peroxisome biogenesis disorder 8B, 614877
R-numbers: R83
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 8A (Zellweger) 614876
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 8A, (Zellweger), Peroxisome biogenesis disorder
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ZELLWEGER SYNDROME 214100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9, ZELLWEGER SYNDROME
R-numbers: R54
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis, Peroxisome biogenesis disorder 8B, 614877, Peroxisome biogenesis disorder 8A, 614876
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 8A, (Zellweger), 614876Peroxisome biogenesis disorder 8B, 614877, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 (PBD-CG9)
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of peroxisome biogenesis, Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, Peroxisome biogenesis disorder 8A, (Zellweger), 614876, Peroxisomal biogenesis disorders, Zellweger Syndrome
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 8A, (Zellweger), 614876, Zellweger Syndrome, Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, Peroxisomal biogenesis disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome, Peroxisome biogenesis disorder 8A, (Zellweger), Peroxisome biogenesis disorder 8B, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9