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Intellectual disability

Gene: PEX11B

Green List (high evidence)

PEX11B (peroxisomal biogenesis factor 11 beta)
EnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 17 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: As per Louise Daugherty's review, developmental delay is commonly seen in this condition. Congenital cataract would be expected however. On balance, include on the ID panel.
Created: 21 Dec 2017, 1:29 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: amended typo in phenotype
Created: 8 Jan 2018, 3:09 p.m.
Confirmed gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) . PMID: 22581968 (2012) patient presented with congenital cataracts, mild intellectual disability, progressive hearing loss, sensory nerve involvement, gastrointestinal problems and recurrent migraine-like episodes. PMID: 28129423 (2017) details five new additional patients from three families found to harbor novel biallelic loss of function PEX11B mutations, extending the spectrum and severity of the phenotypes associated with mutations in this gene. Later in childhood, and further analogous to the original PEX11B patient, all patients in this cohort were found to be developmentally delayed and had intellectual disability.
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 14B, 614920; Intellectual disabilty

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

8 Jan 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PEX11B were set to Peroxisome biogenesis disorder 14B, 614920; Intellectual disability

8 Jan 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PEX11B were set to Peroxisome biogenesis disorder 14B, 614920; Intellectual disability

4 Jan 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to PEX11B. Panel: Intellectual disability Model of inheritance for gene PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene PEX11B was set to ['22581968', '28129423']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX11B was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX11B was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen