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Cataracts

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

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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)

Red List (low evidence)

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.

History Filter Activity

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 May 2016, Gel status: 4

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

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PEX11B was changed to BIALLELIC, autosomal or pseudoautosomal

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PEX11B was created by ellenmcdonagh

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX11B was added to Cataractspanel. Sources: Expert list