SERPINA1

Red SERPINA1 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

Sources

• Expert Review Red
• Victorian Clinical Genetics Services
• UKGTN
• Emory Genetics Laboratory

Phenotypes

• Neonatal and Adult Cholestasis
• Alpha-1 Antitrypsin Deficiency

Red SERPINA1 in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• OMIM

Red SERPINA1 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31

Sources

• Expert Review Red
• Emory Genetics Laboratory

Phenotypes

• Pulmonary Disease

Green SERPINA1 in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Expert list

Phenotypes

• Emphysema due to AAT deficiency, OMIM:613490
• Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490

Green SERPINA1 in Cholestasis

Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Other
• NHS GMS

Phenotypes

• Alpha-1 Antitrypsin Deficiency
• Neonatal and Adult Cholestasis

Red SERPINA1 in Iron metabolism disorders - NOT common HFE mutations

Version 2.6
Latest signed off version: v2.0 (22 Mar 2023)

Sources

• Expert Review Red
• Wessex and West Midlands GLH
• NHS GMS
• Yorkshire and North East GLH
• North West GLH
• Expert list

Phenotypes

• Emphysema due to AAT deficiency OMIM:613490
• alpha 1-antitrypsin deficiency MONDO:0013282

No list SERPINA1 in Ehlers Danlos syndrome with a likely monogenic cause

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Tags

• curated_removed