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Bilateral congenital or childhood onset cataracts

Gene: GJE1

Red List (low evidence)

GJE1 (gap junction protein epsilon 1)
EnsemblGeneIds (GRCh38): ENSG00000203733
EnsemblGeneIds (GRCh37): ENSG00000203733
GJE1 is in 1 panel

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Pseudogene - Sonntag et al (2009) Eur. J. Cell Biol. 88: 65-77
Created: 2 Jun 2016, 1:20 p.m.

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

GJE1 is a former gene symbol for th GJC3 gene. GJE1 is a pseudogene located on chromosome 6q24.1 (source: OMIM). Neither symbol is associated with a disease in OMIM or G2P, and not on the Manchester congenital cataracts gene panel.
Created: 29 Apr 2016, 11:59 a.m.


  • Expert Review Red
Clinvar variants
Variants in GJE1
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).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GJE1 was added to Cataractspanel. Sources: UKGTN