1. Panels
  2. Bilateral congenital or childhood onset cataracts
  3. GJA3
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Bilateral congenital or childhood onset 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

Created: 14 Jun 2016, 8:27 a.m.

Panel version: 0.383

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

Created: 22 Apr 2016, 5:19 p.m.

Panel version: 0.0

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