Green List (high evidence)

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

5 reviews

Anna de Burca (Genomics England Curator)

Green List (high evidence)

In a cohort of 153 patients with alpha-1-antitrypsin deficiency as defined by serum AAT concentration below 0.8 g/L, the majority of whom (81.9%) had the ZZ genotype, (8.1% were SZ and 10% 'other'), 74 (52.5%) presented with neonatal cholestasis.The lay summary included the statement 'Neonatal cholestasis should lead to investigate AAT deficiency because of its association with severe liver disease'
Created: 22 Jan 2019, 3:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal


Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jan 2019, 10:41 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SERPINA1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.

Sarah Leigh (Genomics England Curator)

PMID: 26126923 reports no increase in frequency of SERPINA1 variants in cases compared with controls, however, double and triple variants including SERPINA1 and ATP8B1, ABCB11, JAG1 or ABCB4 were more frequent in cases. In PMID: 26003074 SERPINA1 gene variants were not found more frequents in children with cystic fibrosis and coexisting features of damaged liver and cholestasis than those without hepatic involvement. Overall it appears that SERPINA1 variants are not associated with Cholestasis without the involvement of other gene variants also.
Created: 25 Jul 2018, 12:17 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

cholestasis, alpha-1-antitrypsin deficiency

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

I don't know

We have identified 10 carriers; also 5 homozygotes for the common pathogenic variants in a cohort of ~160 patients tested; it is not clear in the laboratory whether these would explain partially or fully these patients phenotype.
Created: 4 Jun 2018, 1:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Other
  • Alpha-1 Antitrypsin Deficiency
  • Neonatal and Adult Cholestasis
Clinvar variants
Variants in SERPINA1
Panels with this gene

History Filter Activity

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

31 Jan 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SERPINA1 were set to 26126923; 26003074; 24750955

14 Jan 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

Source Other was added to SERPINA1. Mode of inheritance for gene SERPINA1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Alpha-1 Antitrypsin Deficiency; Neonatal and Adult Cholestasis for gene: SERPINA1 Publications for gene SERPINA1 were changed from to 26126923; 26003074; 24750955

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to SERPINA1. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: SERPINA1 was added gene: SERPINA1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: SERPINA1 was set to