Glaucoma (developmental)
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
4 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
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
Ivone Leong (Genomics England Curator)
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
Ellen McDonagh (Genomics England Curator)
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.
Chris Campbell (NHS)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculodentodigital dysplasia
Publications
- 2383
- 4557
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Expert Review Amber
- GDL Glaucoma panel
- Phenotypes
-
- Oculodentodigital dysplasia, OMIM:164200
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Palmoplantar keratodermas
- Rare genetic inflammatory skin disorders
- Familial non syndromic congenital heart disease
- Limb disorders
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Corneal abnormalities
- Pigmentary skin disorders
- Clefting
- Bilateral congenital or childhood onset cataracts
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Familial cicatricial alopecia
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
- Primary lymphoedema
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: GJA1 were set to 25976645; 21273537
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia; open angle glaucoma (OAG) and microcornea to Oculodentodigital dysplasia, OMIM:164200
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GJA1 were set to 25976645;21273537
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GJA1 were set to Oculodentodigital dysplasia;open angle glaucoma (OAG) and microcornea
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GJA1 were set to 25976645
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Chris Campbell (NHS)GJA1 was added to Glaucoma (developmental)panel. Sources: GDL Glaucoma panel
Created
Chris Campbell (NHS)GJA1 was created by Chricampbell