1. Panels
  2. Bilateral congenital or childhood onset cataracts
  3. GJA8
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Bilateral congenital or childhood onset cataracts

Gene: GJA8

Green List (high evidence)
GJA8 (gap junction protein alpha 8)
EnsemblGeneIds (GRCh38): ENSG00000121634
EnsemblGeneIds (GRCh37): ENSG00000121634
OMIM: 600897, Gene2Phenotype
GJA8 is in 6 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
Cataract-Microcornea Syndrome; Cataract 1, multiple types, 116200

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)

Is on the Manchester congenital cataracts gene panel. Confirmed DD gene for CATARACT-MICROCORNEA SYNDROME and CATARACT ZONULAR PULVERULENT TYPE 1. Associated with Cataract 1, multiple types in OMIM.
Created: 22 Apr 2016, 5:21 p.m.

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

Phenotypes
CATARACT-MICROCORNEA SYNDROME; CATARACT ZONULAR PULVERULENT TYPE 1; Cataract 1, multiple types

Created: 22 Apr 2016, 5:21 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
  • Cataract-Microcornea Syndrome
  • Cataract 1, multiple types, 116200
  • CATARACT-MICROCORNEA SYNDROME
  • CATARACT ZONULAR PULVERULENT TYPE 1
  • Cataract 1, multiple types
OMIM
600897
Clinvar variants
Variants in GJA8
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 GJA8 were set to Cataract-Microcornea Syndrome; Cataract 1, multiple types, 116200; CATARACT-MICROCORNEA SYNDROME; CATARACT ZONULAR PULVERULENT TYPE 1; Cataract 1, multiple types

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

GJA8 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

GJA8 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GJA8 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services