Structural eye disease
Gene: PDE6C

PDE6C (phosphodiesterase 6C)
EnsemblGeneIds (GRCh38): ENSG00000095464
EnsemblGeneIds (GRCh37): ENSG00000095464
OMIM: 600827, Gene2Phenotype
PDE6C 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone dystrophy 4; 613093

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
Cone dystrophy 4, 613093

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

Cone dystrophy 4, 613093
Eye Disorders

OMIM

600827

Clinvar variants

Variants in PDE6C

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 PDE6C. Mode of inheritance for gene PDE6C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone dystrophy 4, 613093 for gene: PDE6C

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PDE6C was added gene: PDE6C was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PDE6C was set to Phenotypes for gene: PDE6C were set to Eye Disorders

Structural eye disease Gene: PDE6C