Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: PDE6A

Green List (high evidence)

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

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