Corneal abnormalities

Gene: GJA1

Green List (high evidence)

GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 24 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green, and more than 3 families/cases reported.
Created: 20 Feb 2017, 5:41 p.m.

Chris Campbell (NHS)

Green List (high evidence)

Recessive disease considered mre severe than the dominant form of the disease
Created: 7 Feb 2017, 5:35 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Oculodentodigital dysplasia

Publications

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

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

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

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

20 Feb 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GJA1 were set to Oculodentodigital dysplasia 164200;Oculodentodigital dysplasia, autosomal recessive 257850

20 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).

20 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259; 15637728; 16709485; 17256797;14974090;21670345;23550541

20 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259; 15637728; 16709485;17256797

20 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259; 15637728;16709485

20 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259;15637728

20 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GJA1 were set to 12457340; 16816024; 15108203;15551259

20 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GJA1 were set to 12457340; 16816024;15108203

7 Feb 2017, Gel status: 0

Created

Chris Campbell (NHS)

GJA1 was created by Chricampbell

7 Feb 2017, Gel status: 0

Added New Source

Chris Campbell (NHS)

GJA1 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel