SERPINC1

serpin family C member 1
OMIM: 107300, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SERPINC1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.52	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Thrombophilia 7 due to antithrombin III deficiency #613118
Green SERPINC1 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary antithrombin deficiency MONDO:0013144 Thrombophilia 7 due to antithrombin III deficiency, MIM#613118
Green SERPINC1 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thrombophilia due to antithrombin III deficiency MIM#613118
Red SERPINC1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Thrombophilia due to antithrombin III deficiency
Red SERPINC1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Thrombophilia due to antithrombin III deficiency