Corneal abnormalities

Gene: GJA8

Red List (low evidence)

GJA8 (gap junction protein alpha 8)
EnsemblGeneIds (GRCh38): ENSG00000121634
EnsemblGeneIds (GRCh37): ENSG00000121634
OMIM: 600897, Gene2Phenotype
GJA8 is in 6 panels

2 reviews

Chris Campbell (GEL)

Feedback from Manchester Centre for Genomic Medicine; not enough evidence to go in corneal abnormalities panel. Associated with cataract-microcornea syndrome in a few cases
Created: 3 Mar 2017, 9:51 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group - primary feature is cataracts, and corneal abnormalities is not a primary presenting feature.
Created: 22 Feb 2017, 10:33 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cataract-Microcornea Syndrome
OMIM
600897
Clinvar variants
Variants in GJA8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 1

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

3 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Red List (Low Evidence).

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 4

Set publications

Chris Campbell (GEL)

Publications for GJA8 were set to 16604058; 17724170

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, 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 ()

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