Corneal abnormalities
Gene: GJA1Comment on list classification: Expert review green, and more than 3 families/cases reported.Created: 20 Feb 2017, 5:41 p.m.
Recessive disease considered mre severe than the dominant form of the diseaseCreated: 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
Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia 164200; Oculodentodigital dysplasia, autosomal recessive 257850 to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for GJA1 were set to Oculodentodigital dysplasia 164200;Oculodentodigital dysplasia, autosomal recessive 257850
This gene has been classified as Red List (Low Evidence).
Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259; 15637728; 16709485; 17256797;14974090;21670345;23550541
Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259; 15637728; 16709485;17256797
Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259; 15637728;16709485
Publications for GJA1 were set to 12457340; 16816024; 15108203; 15551259;15637728
Publications for GJA1 were set to 12457340; 16816024; 15108203;15551259
Publications for GJA1 were set to 12457340; 16816024;15108203
GJA1 was created by Chricampbell
GJA1 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel