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DDG2P

Gene: MYOC

No list
MYOC (myocilin)
EnsemblGeneIds (GRCh38): ENSG00000034971
EnsemblGeneIds (GRCh37): ENSG00000034971
OMIM: 601652, Gene2Phenotype
MYOC is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:53 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 13 Feb 2026, 9:53 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • DD-Gene2Phenotype
Phenotypes
  • PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
Tags
curated_removed
OMIM
601652
Clinvar variants
Variants in MYOC
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag curated_removed tag was added to gene: MYOC.

13 Feb 2026, Gel status: 0

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Removed was added to MYOC. Rating Changed from Red List (low evidence) to No List (delete)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: MYOC was added gene: MYOC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYOC were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300