Arthrogryposis
Gene: PEX11BEnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 16 panels
1 review
Alice Gardham (Genomics England)
Green on peroxisomal disorder panelCreated: 11 Jan 2017, 1:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 14B 614920
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Peroxisome biogenesis disorder 14B 614920
- OMIM
- 603867
- Clinvar variants
- Variants in PEX11B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Intellectual disability
- Peroxisomal disorders
- Likely inborn error of metabolism
- Structural eye disease
- Fetal hydrops
- Adult onset leukodystrophy
- Malformations of cortical development
- Ductal plate malformation
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Neonatal cholestasis
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)PEX11B was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Created
Alice Gardham (Genomics England)PEX11B was created by agardham