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  3. SERPINA1
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Newborns main panel

Gene: SERPINA1

Amber List (moderate evidence)
SERPINA1 (serpin family A member 1)
EnsemblGeneIds (GRCh38): ENSG00000197249
EnsemblGeneIds (GRCh37): ENSG00000197249
OMIM: 107400, Gene2Phenotype
SERPINA1 is in 7 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/23632999/ https://pubmed.ncbi.nlm.nih.gov/22933512/ https://pubmed.ncbi.nlm.nih.gov/22912357/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Alpha-1-antitrypsin deficiency
OMIM
107400
Clinvar variants
Variants in SERPINA1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Alpha-1-antitrypsin deficiency for gene: SERPINA1

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SERPINA1. Added phenotypes Alpha-1-antitrypsin deficiency for gene: SERPINA1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to SERPINA1. Added phenotypes Alpha-1-antitrypsin deficiency for gene: SERPINA1 Rating Changed from No List (delete) to Red List (low evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SERPINA1 was added gene: SERPINA1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINA1 were set to Alpha-1-antitrypsin deficiency