SERPINE1

serpin family E member 1
OMIM: 173360, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SERPINE1 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Other Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Plasminogen activator Inhibitor 1 deficiency Plasminogen Activator Inhibitor-1 Deficiency Thrombophilia due to increased concentration of plasminogen activator inhibitor thrombophilia associated with high levels of plasminogen activator inhibitor Plasminogen activator inhibitor-1 deficiency,613329 Transcription of plasminogen activator inhibitor, modulator of
Red SERPINE1 in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Green SERPINE1 in Thrombophilia with a likely monogenic cause Version 2.5 Latest signed off version: v2.2 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 613329 Plasminogen activator inhibitor-1 deficiency
Green SERPINE1 in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH North West GLH Yorkshire and North East GLH Expert Review Green NHS GMS London South GLH Phenotypes 613329 Plasminogen activator inhibitor-1 deficiency
Green SERPINE1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Plasminogen activator inhibitor-1 deficiency, 613329