Mackenzie's Mission_Reproductive Carrier Screening
Gene: SERPINA1

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

1 review

Sarah Righetti (University of New South Wales)

Green List (high evidence)

MUTATIONAL & CLINICAL SPECTRUM
ZZ genotype: 2% have severe, neonatal/early-onset liver disease (potentially fatal/requiring liver transplantation), up to 6% have childhood onset liver disease. Also associated with adult-onset lung disease particularly emphysema (50%+ penetrance) - smoking is an important risk factor (close to 100% penetrance).

TREATMENT
There is no specific treatment for liver disease beyond transplant. There is treatment (AAT augmentation therapy) available to delay progression of lung disease phenotype.

NOTES
Report only ZZ genotype in MM screening context; SZ and SS genotypes do not meet severity criteria.
Created: 16 Oct 2020, 4:06 a.m. | Last Modified: 16 Oct 2020, 4:06 a.m.

Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Emphysema-cirrhosis, due to AAT deficiency

Created: 16 Oct 2020, 4:06 a.m.
Last Modified: 16 Oct 2020, 4:06 a.m.
Panel version: 0.27

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)

OMIM

107400

Clinvar variants

Variants in SERPINA1

Penetrance

None

Panels with this gene

History Filter Activity

16 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: serpina1 has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SERPINA1 was added gene: SERPINA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)

Mackenzie's Mission_Reproductive Carrier Screening Gene: SERPINA1