Cataracts

Gene: PEX5L

Red List (low evidence)

PEX5L (peroxisomal biogenesis factor 5 like)
EnsemblGeneIds (GRCh38): ENSG00000114757
EnsemblGeneIds (GRCh37): ENSG00000114757
OMIM: 611058, Gene2Phenotype
PEX5L is in 1 panel

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: This was likely added as PEX5L is an isoform of the PEX5 gene...it should be the PEX5 gene rather than PEX5L (after feedback from Manchester).
Created: 2 Jun 2016, 2:44 p.m.
Gene and phenotype added from the Manchester congenital cataracts gene panel. Not associated with a disease in OMIM or G2P.
Created: 29 Apr 2016, 3:46 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder
OMIM
611058
Clinvar variants
Variants in PEX5L
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low 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).

13 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).

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PEX5L was created by ellenmcdonagh

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX5L was added to Cataractspanel. Sources: Expert list