Genomics England
GMS Panels
Panels
Genes and Entities

PEX26

peroxisomal biogenesis factor 26
OMIM: 608666
PanelMode of inheritanceDetails
10 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 7A (Zellweger) 614872
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adrenoleukodystrophy neonatal, Peroxisome biogenesis disorder 7A (Zellweger), Refsum disease infantile, Peroxisome biogenesis disorder
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 7A (Zellweger)614872
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 8 608666, ADRENOLEUKODYSTROPHY NEONATAL 202370, INFANTILE REFSUM DISEASE 266510
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8, ADRENOLEUKODYSTROPHY NEONATAL, ZELLWEGER SYNDROME, INFANTILE REFSUM DISEASE
Green
in Inborn errors of metabolism
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
Disorders of peroxisome biogenesis, Peroxisome biogenesis disorder 7A (Zellweger) 61487, Peroxisome biogenesis disorder 7B 614873
Green
in Intellectual disability
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 7A (Zellweger), 614872Peroxisome biogenesis disorder 7B, 614873, INFANTILE REFSUM DISEASE (IRD)
Green
in Malformations of cortical development
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 7A (Zellweger), 61487, Peroxisome biogenesis disorder 7B, 614873
Green
in White matter disorders - adult onset
R-numbers: R62
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 7B, 614873, Peroxisome biogenesis disorder 7A (Zellweger), 614872
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome