Bilateral congenital or childhood onset cataracts
Gene: PEX5L
PEX5L (peroxisomal biogenesis factor 5 like)
EnsemblGeneIds (GRCh38): ENSG00000114757
EnsemblGeneIds (GRCh37): ENSG00000114757
OMIM: 611058, Gene2Phenotype
PEX5L is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000114757
EnsemblGeneIds (GRCh37): ENSG00000114757
OMIM: 611058, Gene2Phenotype
PEX5L is in 1 panel
1 review
Ellen McDonagh (Genomics England Curator)
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