Fetal hydrops
Gene: PEX11BEnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 16 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green: PMID:20033294 (Dursun et al., 2009) and other reviews (e.g. Table 3 of PMID:23137060) suggest that peroxisomal disorders should be considered in the etiology of hydrops fetalis.Created: 21 Dec 2016, 2:02 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Peroxisome biogenesis disorder 14B, 614920
- OMIM
- 603867
- Clinvar variants
- Variants in PEX11B
- Penetrance
- Complete
- 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
panel promoted to version 1
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Created
Rebecca Foulger (Genomics England curator)PEX11B was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)PEX11B was added to Fetal hydropspanel. Sources: Other