SERPINA1

serpin family A member 1
OMIM: 107400, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SERPINA1 in Cholestasis Level 2: Gastroenterological disorders Version 0.240 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Emphysema due to AAT deficiency, MIM#613490 Emphysema-cirrhosis, due to AAT deficiency, MIM#613490 Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490 alpha 1-antitrypsin deficiency, MONDO#0013282
Green SERPINA1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Emphysema due to AAT deficiency, MIM#613490 Emphysema-cirrhosis, due to AAT deficiency, MIM#613490 Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490 alpha 1-antitrypsin deficiency, MONDO#0013282
Green SERPINA1 in Systemic Autoinflammatory Disease_Periodic Fever Level 2: Immunological disorders Version 1.47 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490
Red SERPINA1 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Alpha-1-antitrypsin deficiency
Green SERPINA1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
Green SERPINA1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Antitrypsin alpha 1 deficiency Emphysema due to AAT deficiency, OMIM #107400
Red SERPINA1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
Red SERPINA1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490
Green SERPINA1 in Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Version 0.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490 Emphysema due to AAT deficiency, OMIM:613490