Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: PDE6A

PDE6A (phosphodiesterase 6A)
EnsemblGeneIds (GRCh38): ENSG00000132915
EnsemblGeneIds (GRCh37): ENSG00000132915
OMIM: 180071, Gene2Phenotype
PDE6A is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families and animal model.
Created: 24 Apr 2022, 1:58 a.m. | Last Modified: 24 Apr 2022, 1:58 a.m.

Panel Version: 0.114

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 43 - MIM#613810

Publications

Created: 24 Apr 2022, 1:58 a.m.
Last Modified: 24 Apr 2022, 1:58 a.m.
Panel version: 0.114

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Retinitis pigmentosa 43, 613810

OMIM

180071

Clinvar variants

Variants in PDE6A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6a has been classified as Green List (High Evidence).

24 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE6A were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PDE6A was added gene: PDE6A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PDE6A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6A were set to Retinitis pigmentosa 43, 613810

Retinitis pigmentosa_Autosomal Recessive/X-linked Gene: PDE6A