SERPINA1

serpin family A member 1
OMIM: 107400, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red SERPINA1 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
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 1.79

review Not set
Sources
  • OMIM

Red SERPINA1 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.16

review Not set
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 2.37
Latest signed off version: v2.17 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
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 1.84
Latest signed off version: v1.21 (20 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Alpha-1 Antitrypsin Deficiency
  • Neonatal and Adult Cholestasis

Red SERPINA1 in Iron metabolism disorders


Version 1.33
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
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 syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.63
Latest signed off version: v2.3 (4 Mar 2020)

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Tags
  • curated_removed