Cataracts

Gene: GJC3

Red List (low evidence)

GJC3 (gap junction protein gamma 3)
EnsemblGeneIds (GRCh38): ENSG00000176402
EnsemblGeneIds (GRCh37): ENSG00000176402
OMIM: 611925, Gene2Phenotype
GJC3 is in 1 panel

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Associated with non-syndromic hearing loss
Created: 2 Jun 2016, 1:20 p.m.

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Not on the Manchester congenital cataracts gene panel. Not associated with a disease in OMIM or G2P.
Created: 29 Apr 2016, 11:54 a.m.

Details

Sources
  • Expert Review Red
  • UKGTN
OMIM
611925
Clinvar variants
Variants in GJC3
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).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GJC3 was added to Cataractspanel. Sources: UKGTN