PanelApp
  1. Genes and Genomic Entities
  2. SERPINA1

SERPINA1

serpin family A member 1
OMIM: 107400, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SERPINA1 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.0

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 1.2374

    		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 Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.3

    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

    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 1.1586

    		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 1.116

    		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 1.0

    		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