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  3. SERPINA1
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Pneumothorax

Gene: SERPINA1

Green List (high evidence)
SERPINA1 (serpin family A member 1)
EnsemblGeneIds (GRCh38): ENSG00000197249
EnsemblGeneIds (GRCh37): ENSG00000197249
OMIM: 107400, Gene2Phenotype
SERPINA1 is in 8 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Pneumothorax has been reported >3 unrelated probands with AAT deficiency.

PI*ZZ typically manifest lung phenotype that could lead to pneumothoraces. PI*MZ (carriers) have an increased susceptibility risk of developing lung disease as well.
Created: 28 Nov 2024, 3:45 a.m. | Last Modified: 28 Nov 2024, 3:45 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
alpha 1-antitrypsin deficiency MONDO:0013282

Publications

Created: 28 Nov 2024, 3:45 a.m.
Last Modified: 28 Nov 2024, 3:45 a.m.
Panel version: 0.11

Details

Mode of Inheritance
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
OMIM
107400
Clinvar variants
Variants in SERPINA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SERPINA1 was added gene: SERPINA1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINA1 were set to 27229674; 22215832; 18619132; 22544422 Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490; Emphysema due to AAT deficiency, OMIM:613490