Glaucoma (developmental)
Gene: MYOCEnsemblGeneIds (GRCh38): ENSG00000034971
EnsemblGeneIds (GRCh37): ENSG00000034971
OMIM: 601652, Gene2Phenotype
MYOC is in 4 panels
4 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB glaucoma gene, can't find any evidence that it is associated with structural eye disease. Many cases with juvenile-onset glaucoma describedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glaucoma 1A, primary open angle, 137750
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB glaucoma gene, can't find any evidence that it is associated with structural eye disease. Many cases with juvenile-onset glaucoma describedCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glaucoma 1A, primary open angle, 137750
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review green and >3 families reported of different ethnicities and with different variants.Created: 12 Apr 2017, 11:42 a.m.
Comment on mode of inheritance: Sourced from reviewer and checked in OMIM.Created: 12 Apr 2017, 11:41 a.m.
Chris Campbell (NHS)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
primary open angle glaucoma
Publications
- 2199
- 6275
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Glaucoma 1A, primary open angle, 137750
- OMIM
- 601652
- Clinvar variants
- Variants in MYOC
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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 Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MYOC were set to Glaucoma 1A, primary open angle, 137750
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MYOC was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MYOC were set to 9005853; 9535666; 12522550; 9328473; 9345106; 9697688;10330365
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MYOC were set to 9005853; 9535666; 12522550; 9328473; 9345106;9697688
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MYOC were set to 9005853; 9535666;12522550;9328473;9345106
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MYOC were set to 9005853; 9535666;12522550
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MYOC were set to 9005853;9535666
Added New Source
Ellen McDonagh (Genomics England Curator)MYOC was added to Glaucoma (developmental)panel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYOC was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYOC was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYOC was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYOC was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYOC was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)MYOC was added to Glaucoma (developmental)panel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)MYOC was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)MYOC was added to Glaucoma (developmental)panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)MYOC was added to Glaucoma (developmental)panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)MYOC was added to Glaucoma (developmental)panel. Sources: Eligibility Statements for GeL