Bilateral congenital or childhood onset cataracts
Gene: PEX11BEnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 16 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Also reported in a 3rd case in MCGM.Created: 25 May 2016, 8:11 a.m.
Mode of inheritance
Unknown
Phenotypes
Peroxisome biogenesis disorder
Publications
- Ebberink et al (2012) J Med Genet 49:307-13
- Gillespie et al (2016) Ophthalmology 123:217-220
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Biallelic in the two publications provided.Created: 31 May 2016, 10:58 a.m.
Comment on list classification: Promoted to green due to expert review and provided evidence.Created: 31 May 2016, 10:57 a.m.
Gene and phenotype added from the Manchester congenital cataracts gene panel. It is not associated with a disease in G2P, and one case report in OMIM.
Created: 29 Apr 2016, 3:53 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Peroxisome biogenesis disorder
- OMIM
- 603867
- Clinvar variants
- Variants in PEX11B
- Penetrance
- Complete
- Publications
-
- Ebberink et al (2012) J Med Genet 49:307-13
- Gillespie et al (2016) Ophthalmology 123:217-220
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Peroxisomal disorders
- DDG2P
- Intellectual disability
- 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
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PEX11B were set to Ebberink et al (2012) J Med Genet 49:307-13; Gillespie et al (2016) Ophthalmology 123:217-220
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PEX11B was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Ellen McDonagh (Genomics England Curator)PEX11B was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)PEX11B was added to Cataractspanel. Sources: Expert list