Structural eye disease
Gene: PDE6H

PDE6H (phosphodiesterase 6H)
EnsemblGeneIds (GRCh38): ENSG00000139053
EnsemblGeneIds (GRCh37): ENSG00000139053
OMIM: 601190, Gene2Phenotype
PDE6H is in 5 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
Achromatopsia 6; 610024

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
Achromatopsia 6, 610024

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

Panel version: 0.48

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Achromatopsia 6, 610024
Eye Disorders

OMIM

601190

Clinvar variants

Variants in PDE6H

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 PDE6H. Mode of inheritance for gene PDE6H was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Achromatopsia 6, 610024 for gene: PDE6H

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PDE6H was added gene: PDE6H was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PDE6H was set to Phenotypes for gene: PDE6H were set to Eye Disorders

Structural eye disease Gene: PDE6H