Neonatal cholestasis
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)
Associated with phenotypees in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in at least 2 cases, however, the phenotype associated with PEX11b does not appear to include hepatic features.Created: 25 Jul 2018, 2:41 p.m.
Comment on phenotypes: This phenotype does not appear to include any hepatic involvementCreated: 25 Jul 2018, 2:38 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- ?Peroxisome biogenesis disorder 14B 614920
- OMIM
- 603867
- Clinvar variants
- Variants in PEX11B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Peroxisomal disorders
- Structural eye disease
- Likely inborn error of metabolism
- Fetal hydrops
- Adult onset leukodystrophy
- Malformations of cortical development
- Intellectual disability
- Ductal plate malformation
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Neonatal cholestasis
History Filter Activity
3 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
25 Jul 2018, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex11b has been classified as Red List (Low Evidence).
25 Jul 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PEX11B was changed from to BIALLELIC, autosomal or pseudoautosomal
25 Jul 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B 614920
25 Jul 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX11B were set to 28129423; 22581968
21 Jun 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX11B. Panel: Cholestasis
18 May 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PEX11B was added to Cholestasis panel. Sources: Emory Genetics Laboratory
18 May 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)PEX11B was created by Ellen McDonagh