Peroxisomal disorders
Gene: PEX11B
PEX11B (peroxisomal biogenesis factor 11 beta)
EnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 16 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on list classification: Three variants, plus a mouse modelCreated: 24 Aug 2016, 8:04 a.m.
Two homozygous nonsense variants reported in the literature and a third case reported by Manchester Centre for Genomic Medicine . Mouse model supports association of this gene with this phenotypeCreated: 24 Aug 2016, 8:03 a.m.
Comment on publications: 21954064 mouse modelCreated: 19 Aug 2016, 1:30 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Peroxisome biogenesis disorder 14B 614920
- OMIM
- 603867
- Clinvar variants
- Variants in PEX11B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Peroxisomal disorders
- DDG2P
- Adult onset leukodystrophy
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Ductal plate malformation
- Structural eye disease
- Arthrogryposis
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
3 Oct 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 3rd October 2016
24 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Aug 2016, Gel status: 2
Set publications
Sarah Leigh (Genomics England Curator)Publications for PEX11B were set to 22581968; 21954064; 26233629
19 Aug 2016, Gel status: 2
Set publications
Sarah Leigh (Genomics England Curator)Publications for PEX11B were set to 22581968; 21954064
19 Aug 2016, Gel status: 2
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PEX11B were set to Peroxisome biogenesis disorder 14B 614920
19 Aug 2016, Gel status: 2
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PEX11B was changed to BIALLELIC, autosomal or pseudoautosomal
19 Aug 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)PEX11B was created by sleigh
19 Aug 2016, Gel status: 2
Added New Source
Sarah Leigh (Genomics England Curator)PEX11B was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list