Hereditary angioedema
Gene: PLG
PLG (plasminogen)
EnsemblGeneIds (GRCh38): ENSG00000122194
EnsemblGeneIds (GRCh37): ENSG00000122194
OMIM: 173350, Gene2Phenotype
PLG is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000122194
EnsemblGeneIds (GRCh37): ENSG00000122194
OMIM: 173350, Gene2Phenotype
PLG is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 20 families reported with a recurrent variant, p.Lys330Glu. Single family reported with a different variant.
Note bi-allelic variants are associated with a separate disorder.
Sources: Expert listCreated: 10 Jun 2021, 7:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary angioedema-4 (HAE4), MIM#619360
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hereditary angioedema-4 (HAE4), MIM#619360
- OMIM
- 173350
- Clinvar variants
- Variants in PLG
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
10 Jun 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plg has been classified as Green List (High Evidence).
10 Jun 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plg has been classified as Green List (High Evidence).
10 Jun 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PLG was added gene: PLG was added to Hereditary angioedema. Sources: Expert list Mode of inheritance for gene: PLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLG were set to 28795768; 29548426; 29987869 Phenotypes for gene: PLG were set to Hereditary angioedema-4 (HAE4), MIM#619360