Neonatal cholestasis

Gene: SERPINA1

Red List (low evidence)

SERPINA1 (serpin family A member 1)
EnsemblGeneIds (GRCh38): ENSG00000197249
EnsemblGeneIds (GRCh37): ENSG00000197249
OMIM: 107400, Gene2Phenotype
SERPINA1 is in 6 panels

3 reviews

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

Phenotypes
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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Alpha-1 Antitrypsin Deficiency
OMIM
107400
Clinvar variants
Variants in SERPINA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: serpina1 has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: serpina1 has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

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

25 Jul 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SERPINA1 were set to 26126923

21 Jun 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SERPINA1. Panel: Cholestasis

18 May 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

UKGTN was added to SERPINA1. Panel: Cholestasis Model of inheritance for gene SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene SERPINA1 were set to Neonatal and Adult Cholestasis, Alpha-1 Antitrypsin Deficiency

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINA1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SERPINA1 was created by Ellen McDonagh