This Panel is marked as Internal
Anaemias and red cell disorders
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
1 review
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
-
- Phenotypes
-
- Enzyme Disorder
- OMIM
- 176894
- Clinvar variants
- Variants in PRKG1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)PRKG1 was created by BRIDGE
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)PRKG1 was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)