Glaucoma (developmental)
Gene: GJA1
Huang: segregating in large pedigree with glaucoma/microcornea; Vitiello, segregating in large pedigree with ODDD and microcornea; Park segregating in pedigree with microcornea and microphthalmiaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculodentodigital dysplasia; open angle glaucoma (OAG) and microcornea
Publications
Mode of pathogenicity
Other - please provide details in the comments
Promoted from amber to green as there is sufficient evidence.Created: 24 Apr 2019, 2:37 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Huang: segregating in large pedigree with glaucoma/microcornea; Vitiello, segregating in large pedigree with ODDD and microcornea; Park segregating in pedigree with microcornea and microphthalmiaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculodentodigital dysplasia; open angle glaucoma (OAG) and microcornea
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Feedback from Arianna Tucci: in ODDD glaucoma is not developmental and not a prominent feature. I’d keep it as amber.Created: 26 Apr 2017, 8:57 a.m.
Comment on list classification: Green gene on the Corneal abnormalities version 1.0 gene panel, inherited white matter panel Version 1.6 for Oculodentodigital dysplasia. More than 3 families described for Oculodentodigital dysplasia, and glaucoma is a clinical feature, however unsure whether this should be included as green on the glaucoma panel.Created: 12 Apr 2017, 3:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculodentodigital dysplasia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: GJA1 were set to 25976645; 21273537
Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia; open angle glaucoma (OAG) and microcornea to Oculodentodigital dysplasia, OMIM:164200
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for GJA1 were set to 25976645;21273537
Phenotypes for GJA1 were set to Oculodentodigital dysplasia;open angle glaucoma (OAG) and microcornea
Publications for GJA1 were set to 25976645
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
GJA1 was added to Glaucoma (developmental)panel. Sources: GDL Glaucoma panel
GJA1 was created by Chricampbell