Cataracts

Gene: GJA3

Green List (high evidence)

GJA3 (gap junction protein alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000121743
EnsemblGeneIds (GRCh37): ENSG00000121743
OMIM: 121015, Gene2Phenotype
GJA3 is in 5 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Zonular Pulverulent Cataract; Cataract 14, multiple types, 601885

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

On the Manchester congenital cataracts gene panel. Is a confirmed DD gene for CATARACT ZONULAR PULVERULENT CATARACT TYPE 3. Associated with Cataract 14, multiple types in OMIM.
Created: 22 Apr 2016, 5:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CATARACT ZONULAR PULVERULENT CATARACT TYPE 3; Cataract 14, multiple types

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Zonular Pulverulent Cataract
  • Cataract 14, multiple types, 601885
  • CATARACT ZONULAR PULVERULENT CATARACT TYPE 3
  • Cataract 14, multiple types
OMIM
121015
Clinvar variants
Variants in GJA3
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 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).

14 Jun 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GJA3 were set to Zonular Pulverulent Cataract; Cataract 14, multiple types, 601885;CATARACT ZONULAR PULVERULENT CATARACT TYPE 3; Cataract 14, multiple types

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

GJA3 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

GJA3 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GJA3 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services