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  2. Autoinflammatory Disorders
  3. SERPINA1
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Autoinflammatory Disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Panniculitis is a very rare, but severe, potentially fatal, feature of AAT deficiency.
Sources: Expert Review
Created: 26 Oct 2023, 1:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490

Publications

Created: 26 Oct 2023, 1:31 a.m.

Panel version: 1.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490
OMIM
107400
Clinvar variants
Variants in SERPINA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Oct 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SERPINA1 was added gene: SERPINA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert Review Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINA1 were set to 33516773 Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490 Review for gene: SERPINA1 was set to GREEN