Aortopathy_Connective Tissue Disorders
Gene: PRKG1

PRKG1 (protein kinase, cGMP-dependent, type I)
EnsemblGeneIds (GRCh38): ENSG00000185532
EnsemblGeneIds (GRCh37): ENSG00000185532
OMIM: 176894, Gene2Phenotype
PRKG1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Aortic aneurysm, familial thoracic 8, MIM#615436

Created: 29 Dec 2020, 2:27 a.m.
Last Modified: 29 Dec 2020, 2:27 a.m.
Panel version: 1.6

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

"Strong" evidence by ClinGen Aortopathy Working Group.

Green in PanelApp UK.

A recurrent p.Arg177Gln variant segregated with thoracic aortic disease in 4 families. p.Gly370Ser was reported de novo in one more individual.
Created: 25 Jun 2020, 3:38 a.m. | Last Modified: 25 Jun 2020, 3:38 a.m.

Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Aortic aneurysm, familial thoracic 8, MIM#176894

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jun 2020, 3:38 a.m.
Last Modified: 25 Jun 2020, 3:38 a.m.
Panel version: 0.26

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Aortic aneurysm, familial thoracic 8, MIM#615436

OMIM

176894

Clinvar variants

Variants in PRKG1

Penetrance

None

Publications

Panels with this gene