Structural eye disease
Gene: PDE6G

PDE6G (phosphodiesterase 6G)
EnsemblGeneIds (GRCh38): ENSG00000185527
EnsemblGeneIds (GRCh37): ENSG00000185527
OMIM: 180073, Gene2Phenotype
PDE6G is in 6 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 57; 613582

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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 57, 613582

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

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Retinitis pigmentosa 57, 613582
Eye Disorders

OMIM

180073

Clinvar variants

Variants in PDE6G

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 PDE6G. Mode of inheritance for gene PDE6G was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 57, 613582 for gene: PDE6G

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PDE6G was added gene: PDE6G was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PDE6G was set to Phenotypes for gene: PDE6G were set to Eye Disorders

Structural eye disease Gene: PDE6G