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  3. MYOC
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Glaucoma congenital

Gene: MYOC

Green List (high evidence)
MYOC (myocilin)
EnsemblGeneIds (GRCh38): ENSG00000034971
EnsemblGeneIds (GRCh37): ENSG00000034971
OMIM: 601652, Gene2Phenotype
MYOC is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 8 Oct 2020, 12:29 a.m. | Last Modified: 8 Oct 2020, 12:29 a.m.
Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glaucoma 1A, primary open angle, MIM# 137750

Publications

Created: 8 Oct 2020, 12:29 a.m.
Last Modified: 8 Oct 2020, 12:29 a.m.
Panel version: 0.57

Details

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

History Filter Activity

8 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myoc has been classified as Green List (High Evidence).

8 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYOC were changed from to Glaucoma 1A, primary open angle, MIM# 137750

8 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYOC were set to

8 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYOC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYOC was added gene: MYOC was added to Glaucoma congenital_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYOC was set to Unknown