Structural eye disease
Gene: GUCY2D

GUCY2D (guanylate cyclase 2D, retinal)
EnsemblGeneIds (GRCh38): ENSG00000132518
EnsemblGeneIds (GRCh37): ENSG00000132518
OMIM: 600179, Gene2Phenotype
GUCY2D is in 8 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 1; Cone-rod dystrophy 6; 204000; 601777

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 1, 204000; Cone-rod dystrophy 6, 601777

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

Panel version: 0.38

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Cone-rod dystrophy 6, 601777
Leber congenital amaurosis 1, 204000
Eye Disorders

OMIM

600179

Clinvar variants

Variants in GUCY2D

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 GUCY2D. Mode of inheritance for gene GUCY2D was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 6, 601777; Leber congenital amaurosis 1, 204000 for gene: GUCY2D

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GUCY2D was added gene: GUCY2D was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: GUCY2D was set to Phenotypes for gene: GUCY2D were set to Eye Disorders

Structural eye disease Gene: GUCY2D