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  2. Hypertension and Aldosterone disorders
  3. PDE3A
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Hypertension and Aldosterone disorders

Gene: PDE3A

Green List (high evidence)
PDE3A (phosphodiesterase 3A)
EnsemblGeneIds (GRCh38): ENSG00000172572
EnsemblGeneIds (GRCh37): ENSG00000172572
OMIM: 123805, Gene2Phenotype
PDE3A is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertension and brachydactyly syndrome, MIM# 112410

Publications

Created: 30 Jan 2020, 4:34 a.m.
Last Modified: 30 Jan 2020, 4:34 a.m.
Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hypertension and brachydactyly syndrome, MIM# 112410
OMIM
123805
Clinvar variants
Variants in PDE3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde3a has been classified as Green List (High Evidence).

30 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome, MIM# 112410 to Hypertension and brachydactyly syndrome, MIM# 112410

30 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome, MIM# 112410 to Hypertension and brachydactyly syndrome, MIM# 112410

30 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDE3A were changed from to Hypertension and brachydactyly syndrome, MIM# 112410

30 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE3A were set to 25961942

30 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE3A were set to

30 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDE3A was added gene: PDE3A was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0 Mode of inheritance for gene: PDE3A was set to Unknown