Genomics England
GMS Panels
Panels
Genes and Entities

SERPINA1

serpin family A member 1
OMIM: 107400
PanelMode of inheritanceDetails
2 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha-1 Antitrypsin Deficiency, Neonatal and Adult Cholestasis
Green
in Pneumothorax - familial
R-numbers: R190
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Emphysema due to AAT deficiency, OMIM:613490, Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490