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  3. MYOC
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Structural eye disease

Gene: MYOC

Green List (high evidence)
MYOC (myocilin)
EnsemblGeneIds (GRCh38): ENSG00000034971
EnsemblGeneIds (GRCh37): ENSG00000034971
OMIM: 601652, Gene2Phenotype
MYOC is in 4 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

DB glaucoma gene, can't find any evidence that it is associated with structural eye disease. Many cases with juvenile-onset glaucoma described
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glaucoma 1A, primary open angle, 137750

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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 described
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glaucoma 1A, primary open angle, 137750

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glaucoma 1A, primary open angle, 137750
OMIM
601652
Clinvar variants
Variants in MYOC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MYOC. Added phenotypes Glaucoma 1A, primary open angle, 137750 for gene: MYOC Publications for gene MYOC were changed from 9535666; 12522550; 9345106; 9328473; 9005853; 9697688; 10330365 to 9697688; 9005853; 9328473; 12522550; 10330365; 9535666; 9345106

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MYOC was added gene: MYOC was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: MYOC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYOC were set to 9535666; 12522550; 9345106; 9328473; 9005853; 9697688; 10330365 Phenotypes for gene: MYOC were set to Glaucoma 1A, primary open angle, 137750