Structural eye disease
Gene: GUCA1A

GUCA1A (guanylate cyclase activator 1A)
EnsemblGeneIds (GRCh38): ENSG00000048545
EnsemblGeneIds (GRCh37): ENSG00000048545
OMIM: 600364, Gene2Phenotype
GUCA1A 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
Cone dystrophy-3; 602093

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

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
Cone dystrophy-3, 602093

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 Red

Phenotypes

Cone dystrophy-3, 602093
Eye Disorders

OMIM

600364

Clinvar variants

Variants in GUCA1A

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GUCA1A. Mode of inheritance for gene GUCA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cone dystrophy-3, 602093 for gene: GUCA1A

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GUCA1A was added gene: GUCA1A was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: GUCA1A was set to Phenotypes for gene: GUCA1A were set to Eye Disorders

Structural eye disease Gene: GUCA1A