PanelApp
  1. Genes and Genomic Entities
  2. SERPINA1

SERPINA1

serpin family A member 1
OMIM: 107400, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green SERPINA1 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 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 1.3512

    		1 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 Additional findings_Adult


    Level 2: Screening
    Version 1.130

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • alpha 1-antitrypsin deficiency, MONDO#0013282

    Green SERPINA1 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.28

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 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 0.110

    		1 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

    		1 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 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)

    Red SERPINA1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews 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 1.1

    		1 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