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Mendeliome

Gene: PDE6A

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families and animal model.
Created: 24 Apr 2022, 1:54 a.m. | Last Modified: 24 Apr 2022, 1:54 a.m.
Panel Version: 0.13184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 43 - MIM#613810

Publications

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants associated with retinitis pigments
Created: 20 Apr 2022, 3:49 a.m. | Last Modified: 20 Apr 2022, 3:49 a.m.
Panel Version: 0.13100

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 43 - MIM#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 Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDE6A were changed from to Retinitis pigmentosa 43 - MIM#613810

24 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE6A were set to

24 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDE6A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDE6A was added gene: PDE6A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PDE6A was set to Unknown