Inherited bleeding disorders
Gene: PLAU
PLAU (plasminogen activator, urokinase)
EnsemblGeneIds (GRCh38): ENSG00000122861
EnsemblGeneIds (GRCh37): ENSG00000122861
OMIM: 191840, Gene2Phenotype
PLAU is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000122861
EnsemblGeneIds (GRCh37): ENSG00000122861
OMIM: 191840, Gene2Phenotype
PLAU is in 2 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Quebec platelet disorder
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Quebec platelet disorder
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Quebec platelet disorder
- OMIM
- 191840
- Clinvar variants
- Variants in PLAU
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
19 Dec 2016, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
19 Dec 2016, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)PLAU was added to Inherited bleeding disorderspanel. Source: Expert Review Green
9 Sep 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PLAU was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
9 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PLAU was created by ellenmcdonagh