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Mendeliome

Gene: PRKG1

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

"Strong" by ClinGen Aortopathy Working Group.

A recurrent p.Arg177Gln variant segregated with thoracic aortic disease in 4 families. p.Gly370Ser was reported de novo in one more individual.
Created: 18 Apr 2022, 1:13 a.m. | Last Modified: 18 Apr 2022, 1:13 a.m.
Panel Version: 0.12998

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 8, MIM# 615436

Publications

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

History Filter Activity

18 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkg1 has been classified as Green List (High Evidence).

18 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRKG1 were changed from to Aortic aneurysm, familial thoracic 8, MIM# 615436

18 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRKG1 were set to

18 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRKG1 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: PRKG1 was added gene: PRKG1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRKG1 was set to Unknown