Genomics England
GMS Panels
Panels
Genes and Entities

PEX11B

peroxisomal biogenesis factor 11 beta
OMIM: 603867
PanelMode of inheritanceDetails
8 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 10.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 14B 614920
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 8.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 14B
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 14B
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 14B, 614920, Intellectual disability
Green
in Leukodystrophy, adult onset
R-numbers: R62
Signed-off version 7.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Peroxisome biogenesis disorder 14B, 614920
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 14B
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 14B, 614920