1. Genes and Genomic Entities
  2. SERPINA1

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 1.29

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 1.147

review Not set
Sources
  • OMIM
Red SERPINA1 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.32

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Green SERPINA1 in Pneumothorax - familial


Level 2: Respiratory
Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

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


Level 2: Gastrohepatology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

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 - NOT common HFE mutations


Level 2: Haematology
Version 3.4
Latest signed off version: v3.0 (30 Apr 2025)

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 syndrome with a likely monogenic cause


Level 2: Musculoskeletal
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

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