Cytopenias and congenital anaemias
Gene: PRKG1
PRKG1 (protein kinase, cGMP-dependent, type I)
EnsemblGeneIds (GRCh38): ENSG00000185532
EnsemblGeneIds (GRCh37): ENSG00000185532
OMIM: 176894, Gene2Phenotype
PRKG1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000185532
EnsemblGeneIds (GRCh37): ENSG00000185532
OMIM: 176894, Gene2Phenotype
PRKG1 is in 4 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Keep gene status as Red until evidence of reported cases. Currently there is no evidence to suggest PRKG1 causes a phenotype that would fit this panel. However, it is important to note that PRKG1 (Protein Kinase, CGMP-Dependent, Type I) is involved in the Platelet activation, signaling and aggregation pathway.Created: 3 Mar 2017, 4:42 p.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Enzyme Disorder
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Enzyme Disorder
- OMIM
- 176894
- Clinvar variants
- Variants in PRKG1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
3 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
3 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
17 Feb 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)PRKG1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)PRKG1 was created by LouiseD