Glaucoma (developmental)
Gene: GUCA1B

GUCA1B (guanylate cyclase activator 1B)
EnsemblGeneIds (GRCh38): ENSG00000112599
EnsemblGeneIds (GRCh37): ENSG00000112599
OMIM: 602275, Gene2Phenotype
GUCA1B is in 3 panels

2 reviews

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

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 48; 613827

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

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 48, 613827

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

Panel version: Imported from Structural eye disease panel version 0.38

Details

Sources

NHS GMS
Emory Genetics Laboratory

Phenotypes

Eye Disorders

OMIM

602275

Clinvar variants

Variants in GUCA1B

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

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.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GUCA1B was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory

Glaucoma (developmental) Gene: GUCA1B